[1. WICKLUND MP, KISSEL JT. The limb-girdle muscular dystrophies. Neurol Clin 2014; 32(3): 729-49.10.1016/j.ncl.2014.04.00525037088]Search in Google Scholar
[2. WALTON J, NATRASS F. On the classification, natural history and treatment of the myopathies. Brain. 1954; 77:169-231.10.1093/brain/77.2.16913190076]Search in Google Scholar
[3. BARESI R. From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skeletal Muscle. 2011; 1:24.10.1186/2044-5040-1-24315664721798100]Search in Google Scholar
[4. MAHMOOD O, JIANG XM. Limb-girdle muscular dystrophies: Where next after six decades from the first proposal. Mol Med Rep, 2014; 9(5): 1515-1532.10.3892/mmr.2014.2048402049524626787]Search in Google Scholar
[5. NIGRO V, SAVARESE M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myologica 2014; 32: 1-12.]Search in Google Scholar
[6. COTTA A, CARVALHO E, LOPES DA-CUNHA A, et al. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? Arq Neuropsiquiatr, 2014; 72(9): 721-734.10.1590/0004-282X20140110]Search in Google Scholar
[7. NORWOOD FL, HARLING C, CHINNERY PF, EAGLE M, BUSHBY K, STRAUB V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009; 132: 3175-3186.10.1093/brain/awp236403849119767415]Search in Google Scholar
[8. GOMEZ-DIAZ B, ROSAS-VARGAS H, ROQUE-RAMIREZ B, et al. Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve. 2012; 45: 338-345.10.1002/mus.2231422334167]Search in Google Scholar
[9. DINIZ G, ERYAŞAR G, TÜRE S, et al. A regional panorama of dysferlinopathies. Turk Patoloji Derg. 2012; 28: 259-265.10.5146/tjpath.2012.0113323011829]Search in Google Scholar
[10. FANIN M, NASCIMBENI AC, FULIZIO L, et al. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord 2005; 15:218-24.10.1016/j.nmd.2004.11.00315725583]Search in Google Scholar
[11. STEHLÍKOVÁ K, SKÁLOVÁ D, ZÍDKOVÁ J, MRÁZOVÁL, MAZANEC R, VOHANKA S, HABERLOVA J, HERMANOVA M, ZAMECNIK J, SOUCEK O, OŠLEJŠKOVÁ H, DVOŘÁČKOVÁ N, SOLAROVA P, FAJKUSOVÁ L. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC Neurology 2014, 14:154.10.1186/s12883-014-0154-7414525025135358]Search in Google Scholar
[12. ZATZ M, DE PAULA F, STARLING A, VAINZOF M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular disorders, 2003; 13: 532-544.10.1016/S0960-8966(03)00100-7]Search in Google Scholar
[13. PENISSON-BESNIER I, HACKMAN P, SUOMINEN T, et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry 2010; 81:1200-2.10.1136/jnnp.2009.17843420571043]Search in Google Scholar
[14. HALLIDAY W, GREENBERG CR, WROGEMANN K, et al. Genetic heterogeneity of limb girdle muscular dystrophy in Manitoba Hutterites. Am J Hum Genet 1998; 63 (Suppl): A 392.]Search in Google Scholar
[15. SHOKEIR MH, KOBRINSKY NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet. 1976; 9(2): 197-202.]Search in Google Scholar
[16. WEILER T, GREENBERG CR, ZELINSKI T, et al. Limb Girdle Muscular Dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another LGMD locus. Am J Hum Genet. 1998; 63: 140-7.10.1086/30192513772469634523]Search in Google Scholar
[17. REILICH P, KRAUSE S, SCHRAMM N, et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011; 258:1437-44.10.1007/s00415-011-5953-921336781]Search in Google Scholar
[18. HAUSER MA, HORRIGAN SK, SALMIKANGAS P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet, 2000; 9:2141-7.10.1093/hmg/9.14.214110958653]Search in Google Scholar
[19. SALMIKANGAS P, VAN DER VEN PF, LALOWSKI M, TAIVAINEN A, ZHAO F, SUILA H, SCHRÖDER R, LAPPALAINEN P, FÜRST DO, CARPÉN O. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet. 2003; 12(2): 189-203.10.1093/hmg/ddg02012499399]Search in Google Scholar
[20. MUCHIR A, BONNE G, VAN DER KOOI AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9:1453-9.10.1093/hmg/9.9.145310814726]Search in Google Scholar
[21. LAVAL SH, BUSHBY KM. Limb-girdle muscular dystrophies-from genetics to molecular pathology. Neuropathol Appl Neurobiol. 2004; 30(2):91-105.10.1111/j.1365-2990.2004.00555.x15043707]Search in Google Scholar
[22. POLITANO L, CARBONI N, MADEJ-PILARCZYK A, et al. Advances in basic and clinical research in laminopathies. Acta Myol, 2013; 32:18-22.]Search in Google Scholar
[23. COUCHOUX H, BICHRAOUI H, CHOUABE C, ALTAFAJ X, BONVALLET R, ALLARD B, RONJAT M, BERTHIER C. Caveolin-3 is a direct molecular partner of the Cav 1.1 subunit of the skeletal muscle L-type calcium channel. The International Journal of Biochemistry & Cell Biology, 2011; 43 (5): 713-720. 10.1016/j.biocel.2011.01.01121262376]Search in Google Scholar
[24. GAZZERRO E, SOTGIA F, BRUNO C, LISANTI MP, MINETTI C. Caveolinopathies: from the biology of caveolin-3 to human diseases. European Journal of Human Genetics. 2010; 18: 137-145.10.1038/ejhg.2009.103298718319584897]Search in Google Scholar
[25. LO HP, BERTINI E, MIRABELLA M, DOMAZETOVSKA A, DALE RC, PETRINI S, D’AMICO A, VALENTE EM, BARRESI R, ROBERTS M, TOZZI G, TASCA G, COOPER ST, et al. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders, 2011; 21 (3): 194-203.10.1016/j.nmd.2010.11.01521295981]Search in Google Scholar
[26. MINETTI C, SOTGIA F, BRUNO C, SCARTEZZINI P, BRODA P, BADO M, MASETTI E, MAZZOCCO M, EGEO A, DONATI M A, VOLONTÉ D, GALBIATI F, CORDONE G, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genetics, 1998; 18: 365-368.10.1038/ng0498-3659537420]Search in Google Scholar
[27. CARBONE I, BRUNO C, SOTGIA F, BADO M, BRODA P, MASETTI E, PANELLA A, ZARA F, BRICARELLI FD, CORDONE G, LISANTI MP, MINETTI C. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology.2000; 54(6):1373-6.10.1212/WNL.54.6.137310746614]Search in Google Scholar
[28. MERLINI L, CARBONE I, CAPANNI C, SABATELLI P, TORTORELLI S, LISANTI MP, BRUNO C, MINETTI C. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry. 2002; 73(1):65-7.10.1136/jnnp.73.1.65175730512082049]Search in Google Scholar
[29. WOODMAN SE, SOTGIA F, GALBIATI F, MINETTI C, LISANTI MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology.2004 ; 62(4): 538-43.10.1212/WNL.62.4.538]Search in Google Scholar
[30. PETERLE E, FANIN M, SEMPLICINI C, et al. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol, 2013; 260:2033-41.10.1007/s00415-013-6931-123632945]Search in Google Scholar
[31. VIEIRA NM, NASLAVSKY MS, LICINIO L, et al. A defect in the RNAprocessing protein HNRPDL causes limb-girdle muscular dystrophy1G (LGMD1G). Hum Mol Genet 2014. [Epub ahead of print]10.1093/hmg/ddu12724647604]Search in Google Scholar
[32. STARLING A, KOK F, PASSOS-BUENO MR, et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004; 12: 1033-40.10.1038/sj.ejhg.520128915367920]Search in Google Scholar
[33. BISCEGLIA L, ZOCCOLELLA S, TORRACO A, et al. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 2010; 18: 636-41.10.1038/ejhg.2009.235298733620068593]Search in Google Scholar
[34. FARDEAU M, HILLAIRE D, MIGNARD C, FEINGOLD N, FEINGOLD J, MIGNARD D, DE UBEDA B, COLLIN H, TOME FM, RICHARD I, BECKMANN J. Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996; 119: 295-308.10.1093/brain/119.1.2958624690]Search in Google Scholar
[35. PATHAK P, SHARMA MC, SARKAR C, et al. Limb-girdle muscular dystrophy type 2A in India: a study based on semiquantitative protein analysis, with clinical and histopathological correlation. Neurol India, 2010; 58: 549-54.10.4103/0028-3886.68675]Search in Google Scholar
[36. WEILER T, BASHIR R, ANDERSON LV, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene (s). Hum Mol Genet, 1999; 8:871-7.10.1093/hmg/8.5.871]Search in Google Scholar
[37. CACCIOTTOLO M, NUMITONE G, AURINO S, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011; 19:974-80.10.1038/ejhg.2011.70]Search in Google Scholar
[38. NOGUCHI S, MCNALLY EM, BEN OTHMANE K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome13 muscular dystrophy. Science. 1995; 270:819-22.10.1126/science.270.5237.819]Search in Google Scholar
[39. LIM LE, DUCLOS F, BROUX O, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995; 11:257-65.10.1038/ng1195-257]Search in Google Scholar
[40. ROBERDS SL, LETURCQ F, ALLAMAND V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78:625-33.10.1016/0092-8674(94)90527-4]Search in Google Scholar
[41. MOREIRA ES, WILTSHIRE TJ, FAULKNER G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000; 24:163-6.10.1038/7282210655062]Search in Google Scholar
[42. LOCKE M, TINSLEY CL, BENSON MA, et al. TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum Mol Genet 2009; 18:2344-58.10.1093/hmg/ddp167269468619349376]Search in Google Scholar
[43. FROSK P, WEILER T, NYLEN E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002; 70: 663-72.10.1086/33908344762111822024]Search in Google Scholar
[44. BROWN SC, TORELLI S, BROCKINGTON M, YUVA Y, JIMENEZ C, FENG L, ANDERSON L, UGO I, KROGER S, BUSHBY K, VOIT T, SEWRY C, MUNTONI F. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies, American Journal of Pathology, 2004, 164 (2):727-37.]Search in Google Scholar
[45. LIANG W-C, HAYASHI YK, OGAWA M, WANG C-H, HUANG W-T, NISHINO I, JONG Y-J. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscular Disorders, 2013, 23 (8): 675-681.10.1016/j.nmd.2013.05.01023800702]Search in Google Scholar
[46. BROCKINGTON M, BLAKE DJ, PRANDINI P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet, 2001; 69:1198-209.10.1086/324412123555911592034]Search in Google Scholar
[47. MERCURI E, BROCKINGTON M, STRAUB V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. AnnNeurol, 2003; 53:537-42.10.1002/ana.1055912666124]Search in Google Scholar
[48. GERULL B, GRAMLICH M, ATHERTON J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002; 30:201-4.10.1038/ng81511788824]Search in Google Scholar
[49. CHONG YK, KWAN MA LC, LO KL, LAI LEE CK, MAK CM, CHI KAN AN, LAM CW. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy. European Journal of Paediatric Neurology, 2014 [Epub ahead of print].10.1016/j.ejpn.2014.03.00324657014]Search in Google Scholar
[50. BEHIN A, LETURCQ F, COSSÉE M, WAHBI K, DEBURGRAVE N, BÉCANE H-M, CARLIER R-Y, LAFORÊT P, STOJKOVIC T, CARLIER P, EYMARD B. Anoctamin 5 myopathy: More patients, more phenotypes. Journal of the Neurological Sciences, 2013, 333 (Suppl. 1): e47. 10.1016/j.jns.2013.07.1598]Search in Google Scholar
[51. BOLDUC V, MARLOW G, BOYCOTT KM, SALEKI K, INOUE H, KROON J, ITAKURA M, ROBITAILLE Y, PARENT L, BAAS F, et al. Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies. The American Journal of Human Genetics. 2010; 86:213-221.10.1016/j.ajhg.2009.12.013282017020096397]Search in Google Scholar
[52. BOUQUET F, COSSEE M, BEHIN A, DEBURGRAVE N, ROMERO N, LETURCQ F, EYMARD B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene (Myopathie de type Miyoshi associée à des mutations du gène de l’anoctamine 5). Revue Neurologique. 2012; 168 (2): 135-141.10.1016/j.neurol.2011.10.00522336395]Search in Google Scholar
[53. HICKS D, SARKOZY A, MUELAS N, KÖEHLER K, HUEBNER A, HUDSON G, CHINNERY PF, BARRESI R, EAGLE M, et al. A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy. Brain. 2011; 134 (1): 171-182.10.1093/brain/awq294403851221186264]Search in Google Scholar
[54. LITTLE A, MCKEEVER P, GRUIS K. Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. Muscle & Nerve, 2013; 47 (2): 287-291.10.1002/mus.2354223169617]Search in Google Scholar
[55. MAGRI F, DEL BO R, D’ANGELO MG, SCIACCO M, GANDOSSINI S, GOVONI A, NAPOLI L, CISCATO P, et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscular Disorders, 2012; 22 (11): 934-943.10.1016/j.nmd.2012.05.001350069222742934]Search in Google Scholar
[56. MAHJNEH I, JAISWAL J, LAMMINEN A, SOMER M, MARLOW G, KIURU-ENARI S, BASHIR R. A new distal myopathy with mutation in anoctamin 5. Neuromuscular Disorders, 2010; 20 (12): 791-795.10.1016/j.nmd.2010.07.270420677620692837]Search in Google Scholar
[57. RAJ JOSHI P, GLÄSER D, DREßEL C, KRESS W, WEIS J, DESCHAUER M. Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. Neuromuscular Disorders, 2014; 24 (1): 43-47.10.1016/j.nmd.2013.09.00324239059]Search in Google Scholar
[58. SARKOZY A, HICKS D, HUDSON J, LAVAL SH, BARRESI R, HILTON-JONES D, DESCHAUER M, HARRIS E, et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation. 2013; 34 (8): 1111-1118.10.1002/humu.2234223606453]Search in Google Scholar
[59. SCHESSL J, KRESS W, SCHOSER B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy, 2012; Muscle & Nerve, 45 (5): 740-742.10.1002/mus.2328122499103]Search in Google Scholar
[60. WAHL CM, VAN GHELUE M, ARNTZEN KA, HALVORSEN H, INGEBRIGTSEN M, SKOGSTAD A, HESTHOLM B, LØSETH S, MELLGREN SI, RASMUSSEN F, LINDAHL S, JONSRUD C. Mutations in anoctamin 5 in limb girdle muscular dystrophy in Norway: Phenotypic variability and mutation spectrum. Journal of the Neurological Sciences, 2013; 333 (SUPPL. 1): E444.10.1016/j.jns.2013.07.1589]Search in Google Scholar
[61. WITTING N, DUNO M, PETRI H, KRAG T, BUNDGAARD H, KOBER L, VISSING J. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. Journal of Neurology, 2013; 260 (8): 2084-2093.10.1007/s00415-013-6934-y23670307]Search in Google Scholar
[62. TIAN Y, SCHREIBER R, KUNZELMANN K. Anoctamins are a family of Ca2+-activated Cl- channels. J Cell Sci; 125:4991-8.]Search in Google Scholar
[63. MERCURI E, MESSINA S, BRUNO C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 2009; 72: 1802-9.10.1212/01.wnl.0000346518.68110.6019299310]Search in Google Scholar
[64. PUCKETT RL, MOORE SA, WINDER TL, et al. Further evidence of Fukutin mutations as a cause of childhood onset limbgirdle muscular dystrophy without mental retardation. Neuromuscul Disord, 2009; 19:352-6.10.1016/j.nmd.2009.03.001269859319342235]Search in Google Scholar
[65. BIANCHERI R, FALACE A, TESSA A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun, 2007; 363:1033-7.10.1016/j.bbrc.2007.09.06617923109]Search in Google Scholar
[66. PANE M, MESSINA S, VASCO G, FOLEY AR, MORANDI L, PEGORARO E, MONGINI T, D’AMICO A, BIANCO F, LOMBARDO ME, SCALISE R, BRUNO C, BERARDINELLI A, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders, 2012; 22 (8): 685-689.10.1016/j.nmd.2012.05.006347653222727687]Search in Google Scholar
[67. CLEMENT EM, GODFREY C, TAN J, et al. Mild POMGNT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol, 2008; 65:137-41.10.1001/archneurol.2007.218195152]Search in Google Scholar
[68. RADUCU M, BAETS J, FANO O, et al. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limbgirdle muscular dystrophy type 20. Eur J Hum Genet, 2012.10.1038/ejhg.2012.40342112522419172]Search in Google Scholar
[69. GODFREY C, FOLEY AR, CLEMENT E, MUNTONI F. Dystroglycanopathies: coming into focus, Current Opinion in Genetics & Development. 2011; 21 (3): 278-285.]Search in Google Scholar
[70. HARA Y, BALCI-HAYTA B, YOSHIDA-MORIGUCHI T, KANAGAWA M, BELTRÁN-VALERO DE BERNABÉ D, GÜNDEŞLI H, WILLER T, SATZ JS, CRAWFORD RW, et al. A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. New Engl. J. Med. 2011; 364(10): 939-946.]Search in Google Scholar
[71. GUNDESLI H, TALIM B, KORKUSUZ P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87:834-41.10.1016/j.ajhg.2010.10.017299737321109228]Search in Google Scholar
[72. CETIN N, BALCI-HAYTA B, GUNDESLI H, et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013; 50:437-43.10.1136/jmedgenet-2012-10148723687351]Search in Google Scholar
[73. BOGERSHAUSEN N, SHAHRZAD N, CHONG JX, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle musculardystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet; 93:181-90. 87:834-41.10.1016/j.ajhg.2013.05.028371075723830518]Search in Google Scholar
[74. SCRIVENS PJ, SHAHRZAD N, MOORES A, et al. TRAPPC2L is a novel, highly conserved TRAPP-interacting protein. Traffic 2009; 10:724-36.10.1111/j.1600-0854.2009.00906.x19416478]Search in Google Scholar
[75. CARSS KJ, STEVENS E, FOLEY AR, CIRAK, RIEMERSMA M, TORELLI S, HOISCHEN A, WILLER T, VAN SCHERPENZEEL M, MOORE SA, et al. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb- Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. The American Journal of Human Genetics. 2013; 93 (1): 29-41.10.1016/j.ajhg.2013.05.009371076823768512]Search in Google Scholar
[76. CIRAK S, FOLEY AR, HERRMANN R, WILLER T, YAU S, STEVENS E, TORELLI S, BRODD L, KAMYNINA A, VONDRACEK P, ROPER H, LONGMAN C, KORINTHENBERG R. et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013; 136(1): 269-281. 10.1093/brain/aws312356207623288328]Search in Google Scholar
[77. GUGLIERI M, BUSHBY K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India, 2008; 56: 271-80.10.4103/0028-3886.4344518974553]Search in Google Scholar
[78. WICKLUND MP, KISSEL JT. The limb-girdle muscular dystrophies. Neurol Clin 2014; 32(3):729-49.10.1016/j.ncl.2014.04.00525037088]Search in Google Scholar
[79. WALTON J, NATRASS F. On the classification, natural history and treatment of the myopathies. Brain. 1954; 77:169-231.10.1093/brain/77.2.169]Search in Google Scholar
[80. BARESI R. From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skeletal Muscle. 2011; 1:24.10.1186/2044-5040-1-24]Search in Google Scholar
[81. MAHMOOD O, JIANG XM. Limb-girdle muscular dystrophies: Where next after six decades from the first proposal. Mol Med Rep, 2014; 9(5): 1515-1532.10.3892/mmr.2014.2048]Search in Google Scholar
[82. NIGRO V, SAVARESE M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myologica 2014; 32: 1-12.]Search in Google Scholar
[83. COTTA A, CARVALHO E, LOPES DA-CUNHA A, et al. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? Arq Neuropsiquiatr, 2014; 72(9):721-734.10.1590/0004-282X20140110]Search in Google Scholar
[84. NORWOOD FL, HARLING C, CHINNERY PF, EAGLE M, BUSHBY K, STRAUB V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009; 132:3175-3186.10.1093/brain/awp236]Search in Google Scholar
[85. GOMEZ-DIAZ B, ROSAS-VARGAS H, ROQUE-RAMIREZ B, et al. Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve. 2012; 45:338-345.10.1002/mus.22314]Search in Google Scholar
[86. DINIZ G, ERYAŞAR G, TÜRE S, et al. A regional panorama of dysferlinopathies. Turk Patoloji Derg. 2012; 28: 259-265.10.5146/tjpath.2012.01133]Search in Google Scholar
[87. FANIN M, NASCIMBENI AC, FULIZIO L, et al. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord 2005; 15:218-24.10.1016/j.nmd.2004.11.003]Search in Google Scholar
[88. STEHLÍKOVÁ K, SKÁLOVÁ D, ZÍDKOVÁ J, MRÁZOVÁ L, MAZANEC R, VOHANKA S, HABERLOVA J, HERMANOVA M, ZAMECNIK J, SOUCEK O, OŠLEJŠKOVÁ H, DVOŘÁČKOVÁ N, SOLAROVA P, FAJKUSOVÁ L. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC Neurology 2014, 14:154.10.1186/s12883-014-0154-7]Search in Google Scholar
[89. ZATZ M, DE PAULA F, STARLING A, VAINZOF M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular disorders, 2003; 13: 532-544.10.1016/S0960-8966(03)00100-7]Search in Google Scholar
[90. PENISSON-BESNIER I, HACKMAN P, SUOMINEN T, et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry 2010; 81:1200-2.10.1136/jnnp.2009.17843420571043]Search in Google Scholar
[91. HALLIDAY W, GREENBERG CR, WROGEMANN K, et al. Genetic heterogeneity of limb girdle muscular dystrophy in Manitoba Hutterites. Am J Hum Genet 1998; 63 (Suppl): A 392.]Search in Google Scholar
[92. SHOKEIR MH, KOBRINSKY NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet. 1976; 9(2): 197-202.]Search in Google Scholar
[93. WEILER T, GREENBERG CR, ZELINSKI T, et al. Limb Girdle Muscular Dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another LGMD locus. Am J Hum Genet. 1998; 63: 140-7.10.1086/30192513772469634523]Search in Google Scholar
[94. REILICH P, KRAUSE S, SCHRAMM N, et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011; 258:1437-44.10.1007/s00415-011-5953-921336781]Search in Google Scholar
[95. HAUSER MA, HORRIGAN SK, SALMIKANGAS P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet, 2000; 9:2141-7.10.1093/hmg/9.14.214110958653]Search in Google Scholar
[96. SALMIKANGAS P, VAN DER VEN PF, LALOWSKI M, TAIVAINEN A, ZHAO F, SUILA H, SCHRÖDER R, LAPPALAINEN P, FÜRST DO, CARPÉN O. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet. 2003; 12(2): 189-203.10.1093/hmg/ddg02012499399]Search in Google Scholar
[97. MUCHIR A, BONNE G, VAN DER KOOI AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limbgirdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9:1453-9.10.1093/hmg/9.9.145310814726]Search in Google Scholar
[98. LAVAL SH, BUSHBY KM. Limb-girdle muscular dystrophies-from genetics to molecular pathology. Neuropathol Appl Neurobiol.2004; 30(2): 91-105.10.1111/j.1365-2990.2004.00555.x15043707]Search in Google Scholar
[99. POLITANO L, CARBONI N, MADEJ-PILARCZYK A, et al. Advances in basic and clinical research in laminopathies. Acta Myol, 2013; 32:18-22.]Search in Google Scholar
[100. COUCHOUX H, BICHRAOUI H, CHOUABE C, ALTAFAJ X, BONVALLET R, ALLARD B, RONJAT M, BERTHIER C. Caveolin-3 is a direct molecular partner of the Cav 1.1 subunit of the skeletal muscle L-type calcium channel. The International Journal of Biochemistry & Cell Biology, 2011; 43 (5): 713-720.10.1016/j.biocel.2011.01.01121262376]Search in Google Scholar
[101. GAZZERRO E, SOTGIA F, BRUNO C, LISANTI MP, MINETTI C. Caveolinopathies: from the biology of caveolin-3 to human diseases. European Journal of Human Genetics. 2010; 18: 137-145.10.1038/ejhg.2009.103298718319584897]Search in Google Scholar
[102. LO HP, BERTINI E, MIRABELLA M, DOMAZETOVSKA A, DALE RC, PETRINI S, D’AMICO A, VALENTE EM, BARRESI R, ROBERTS M, TOZZI G, TASCA G, COOPER ST, et al. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders, 2011; 21 (3): 194-203.10.1016/j.nmd.2010.11.01521295981]Search in Google Scholar
[103. MINETTI C, SOTGIA F, BRUNO C, SCARTEZZINI P, BRODA P, BADO M, MASETTI E, MAZZOCCO M, EGEO A, DONATI M A, VOLONTÉ D, GALBIATI F, CORDONE G, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genetics, 1998; 18: 365-368.10.1038/ng0498-3659537420]Search in Google Scholar
[104. CARBONE I, BRUNO C, SOTGIA F, BADO M, BRODA P, MASETTI E, PANELLA A, ZARA F, BRICARELLI FD, CORDONE G, LISANTI MP, MINETTI C. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000; 54(6):1373-6.10.1212/WNL.54.6.137310746614]Search in Google Scholar
[105. MERLINI L, CARBONE I, CAPANNI C, SABATELLI P, TORTORELLI S, LISANTI MP, BRUNO C, MINETTI C. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry. 2002; 73(1):65-7.10.1136/jnnp.73.1.65175730512082049]Search in Google Scholar
[106. WOODMAN SE, SOTGIA F, GALBIATI F, MINETTI C, LISANTI MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology.2004 ; 62(4):538-43. 10.1212/WNL.62.4.538]Search in Google Scholar
[107. PETERLE E, FANIN M, SEMPLICINI C, et al. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol, 2013; 260:2033-41.10.1007/s00415-013-6931-123632945]Search in Google Scholar
[108. VIEIRA NM, NASLAVSKY MS, LICINIO L, et al. A defect in the RNA processing protein HNRPDL causes limb-girdle muscular dystrophy1G (LGMD1G). Hum Mol Genet 2014 [Epub ahead of print].10.1093/hmg/ddu12724647604]Search in Google Scholar
[109. STARLING A, KOK F, PASSOS-BUENO MR, et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004; 12: 1033-40.10.1038/sj.ejhg.520128915367920]Search in Google Scholar
[110. BISCEGLIA L, ZOCCOLELLA S, TORRACO A, et al. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 2010; 18: 636-41.10.1038/ejhg.2009.235298733620068593]Search in Google Scholar
[111. FARDEAU M, HILLAIRE D, MIGNARD C, FEINGOLD N, FEINGOLD J, MIGNARD D, DE UBEDA B, COLLIN H, TOME FM, RICHARD I, BECKMANN J. Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996; 119: 295-308.10.1093/brain/119.1.2958624690]Search in Google Scholar
[112. PATHAK P, SHARMA MC, SARKAR C, et al. Limb girdle muscular dystrophy type 2A in India: a study based on semiquantitative protein analysis, with clinical and histopathological correlation. Neurol India, 2010; 58:549-54.10.4103/0028-3886.6867520739790]Search in Google Scholar
[113. WEILER T, BASHIR R, ANDERSON LV, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene (s). Hum Mol Genet, 1999; 8:871-7.10.1093/hmg/8.5.871]Search in Google Scholar
[114. CACCIOTTOLO M, NUMITONE G, AURINO S, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011; 19:974-80.10.1038/ejhg.2011.70]Search in Google Scholar
[115. NOGUCHI S, MCNALLY EM, BEN OTHMANE K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome13 muscular dystrophy. Science. 1995; 270:819-22.10.1126/science.270.5237.819]Search in Google Scholar
[116. LIM LE, DUCLOS F, BROUX O, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995; 11:257-65.10.1038/ng1195-257]Search in Google Scholar
[117. ROBERDS SL, LETURCQ F, ALLAMAND V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78:625-33.10.1016/0092-8674(94)90527-4]Search in Google Scholar
[118. MOREIRA ES, WILTSHIRE TJ, FAULKNER G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-6.10.1038/72822]Search in Google Scholar
[119. LOCKE M, TINSLEY CL, BENSON MA, et al. TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum Mol Genet 2009; 18:2344-58.10.1093/hmg/ddp167]Search in Google Scholar
[120. FROSK P, WEILER T, NYLEN E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002; 70: 663-72.10.1086/339083]Search in Google Scholar
[121. BROWN SC, TORELLI S, BROCKINGTON M, YUVA Y, JIMENEZ C, FENG L, ANDERSON L, UGO I, KROGER S, BUSHBY K, VOIT T, SEWRY C, MUNTONI F. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. American Journal of Pathology, 2004, 164 (2):727-37.10.1016/S0002-9440(10)63160-4]Search in Google Scholar
[122. LIANG W-C, HAYASHI YK, OGAWA M, WANG C-H, HUANG W-T, NISHINO I, JONG Y-J. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan, Neuromuscular Disorders, 2013, 23 (8): 675-681.]Search in Google Scholar
[123. BROCKINGTON M, BLAKE DJ, PRANDINI P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet, 2001; 69:1198-209.10.1086/324412123555911592034]Search in Google Scholar
[124. MERCURI E, BROCKINGTON M, STRAUB V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. AnnNeurol, 2003; 53:537-42.10.1002/ana.1055912666124]Search in Google Scholar
[125. GERULL B, GRAMLICH M, ATHERTON J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy,Nat Genet 2002; 30:201-4.]Search in Google Scholar
[126. CHONG YK, KWAN MA LC, LO KL, LAI LEE CK, MAK CM, CHI KAN AN, LAM CW. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy. European Journal of Paediatric Neurology, 2014 [Epub ahead of print].10.1016/j.ejpn.2014.03.00324657014]Search in Google Scholar
[127. BEHIN A, LETURCQ F, COSSÉE M, WAHBI K, DEBURGRAVE N, BÉCANE H-M, CARLIER R-Y, LAFORÊT P, STOJKOVIC T, CARLIER P, EYMARD B. Anoctamin 5 myopathy: More patients, more phenotypes. Journal of the Neurological Sciences, 2013, 333 (Suppl. 1): e47.10.1016/j.jns.2013.07.1598]Search in Google Scholar
[128. BOLDUC V, MARLOW G, BOYCOTT KM, SALEKI K, INOUE H., KROON J, ITAKURA M, ROBITAILLE Y, PARENT L, BAAS F, et al. Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies. The American Journal of Human Genetics. 2010; 86:213-221.10.1016/j.ajhg.2009.12.013282017020096397]Search in Google Scholar
[129. BOUQUET F, COSSEE M, BEHIN A, DEBURGRAVE N, ROMERO N, LETURCQ F, EYMARD B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene (Myopathie de type Miyoshi associée à des mutations du gène de l’anoctamine 5). Revue Neurologique. 2012; 168 (2): 135-141.10.1016/j.neurol.2011.10.00522336395]Search in Google Scholar
[130. HICKS D, SARKOZY A, MUELAS N, KÖEHLER K, HUEBNER A, HUDSON G, CHINNERY PF, BARRESI R, EAGLE M, et al. A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy. Brain. 2011; 134 (1): 171-182.10.1093/brain/awq294403851221186264]Search in Google Scholar
[131. LITTLE A, MCKEEVER P, GRUIS K. Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. Muscle & Nerve, 2013; 47 (2): 287-291.10.1002/mus.2354223169617]Search in Google Scholar
[132. MAGRI F, DEL BO R, D’ANGELO MG, SCIACCO M, GANDOSSINI S, GOVONI A, NAPOLI L, CISCATO P, et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscular Disorders, 2012; 22 (11): 934-943.10.1016/j.nmd.2012.05.001350069222742934]Search in Google Scholar
[133. MAHJNEH I, JAISWAL J, LAMMINEN A, SOMER M, MARLOW G, KIURU-ENARI S, BASHIR R. A new distal myopathy with mutation in anoctamin 5. Neuromuscular Disorders, 2010; 20 (12): 791-795.10.1016/j.nmd.2010.07.270420677620692837]Search in Google Scholar
[134. RAJ JOSHI P, GLÄSER D, DREßEL C, KRESS W, WEIS J, DESCHAUER M. Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. Neuromuscular Disorders, 2014; 24 (1): 43-47. 10.1016/j.nmd.2013.09.00324239059]Search in Google Scholar
[135. SARKOZY A, HICKS D, HUDSON J, LAVAL SH, BARRESI R, HILTON-JONES D, DESCHAUER M, HARRIS E, et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation. 2013; 34 (8): 1111-1118.10.1002/humu.2234223606453]Search in Google Scholar
[136. SCHESSL J, KRESS W, SCHOSER B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 2012; Muscle & Nerve, 45 (5): 740-742.]Search in Google Scholar
[137. WAHL CM, VAN GHELUE M, ARNTZEN KA, HALVORSEN H, INGEBRIGTSEN M, SKOGSTAD A, HESTHOLM B, LØSETH S, MELLGREN SI, RASMUSSEN F, LINDAHL S, JONSRUD C. Mutations in anoctamin 5 in limb girdle muscular dystrophy in Norway: Phenotypic variability and mutation spectrum. Journal of the Neurological Sciences, 2013; 333 (SUPPL. 1): E444.10.1016/j.jns.2013.07.1589]Search in Google Scholar
[138. WITTING N, DUNO M, PETRI H, KRAG T, BUNDGAARD H, KOBER L, VISSING J. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. Journal of Neurology, 2013; 260 (8): 2084-2093.10.1007/s00415-013-6934-y23670307]Search in Google Scholar
[139. TIAN Y, SCHREIBER R, KUNZELMANN K. Anoctamins are a family of Ca2+-activated Cl- channels. J Cell Sci; 125:4991-8.]Search in Google Scholar
[140. MERCURI E, MESSINA S, BRUNO C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 2009;72: 1802-9.10.1212/01.wnl.0000346518.68110.6019299310]Search in Google Scholar
[141. PUCKETT RL, MOORE SA, WINDER TL, et al. Further evidence of Fukutin mutations as a cause of childhood onset limbgirdle muscular dystrophy without mental retardation. Neuromuscul Disord, 2009;19:352-6.10.1016/j.nmd.2009.03.001269859319342235]Search in Google Scholar
[142. BIANCHERI R, FALACE A, TESSA A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun, 2007; 363:1033-7.10.1016/j.bbrc.2007.09.06617923109]Search in Google Scholar
[143. PANE M, MESSINA S, VASCO G, FOLEY AR, MORANDI L, PEGORARO E, MONGINI T, D’AMICO A, BIANCO F, LOMBARDO ME, SCALISE R., BRUNO C, BERARDINELLI A, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders, 2012; 22 (8): 685-689.10.1016/j.nmd.2012.05.006347653222727687]Search in Google Scholar
[144. CLEMENT EM, GODFREY C, TAN J, et al. Mild POMGNT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol, 2008; 65:137-41.10.1001/archneurol.2007.218195152]Search in Google Scholar
[145. RADUCU M, BAETS J, FANO O, et al. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limbgirdle muscular dystrophy type 20. Eur J Hum Genet, 2012.10.1038/ejhg.2012.40342112522419172]Search in Google Scholar
[146. GODFREY C, FOLEY AR, CLEMENT E, MUNTONI F. Dystroglycanopathies: coming into focus. Current Opinion in Genetics & Development. 2011; 21 (3): 278-285.10.1016/j.gde.2011.02.00121397493]Search in Google Scholar
[147. HARA Y, BALCI-HAYTA B, YOSHIDA-MORIGUCHI T, KANAGAWA M, BELTRÁN-VALERO DE BERNABÉ D, GÜNDEŞLI H, WILLER T, SATZ JS, CRAWFORD RW, et al. A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. New Engl. J. Med. 2011; 364(10): 939-946.]Search in Google Scholar
[148. GUNDESLI H, TALIM B, KORKUSUZ P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87:834-41.10.1016/j.ajhg.2010.10.017299737321109228]Search in Google Scholar
[149. CETIN N, BALCI-HAYTA B, GUNDESLI H, et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013; 50:437-43.10.1136/jmedgenet-2012-10148723687351]Search in Google Scholar
[150. BOGERSHAUSEN N, SHAHRZAD N, CHONG JX, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet; 93:181-90. 87:834-41.10.1016/j.ajhg.2013.05.028371075723830518]Search in Google Scholar
[151. SCRIVENS PJ, SHAHRZAD N, MOORES A, et al. TRAPPC2L is a novel, highly conserved TRAPP-interacting protein. Traffic 2009; 10:724-36.10.1111/j.1600-0854.2009.00906.x19416478]Search in Google Scholar
[152. CARSS KJ, STEVENS E, FOLEY AR, CIRA K, RIEMERSMA M, TORELLI S, HOISCHEN A, WILLER T, VAN SCHERPENZEEL M, MOORE SA, et al. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb- Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. The American Journal of Human Genetics. 2013; 93 (1): 29-41.10.1016/j.ajhg.2013.05.009371076823768512]Search in Google Scholar
[153. CIRAK S, FOLEY AR, HERRMANN R, WILLER T, YAU S, STEVENS E, TORELLI S, BRODD L, KAMYNINA A, VONDRACEK P, ROPER H, LONGMAN C, KORINTHENBERG R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013; 136(1): 269-281.10.1093/brain/aws312356207623288328]Search in Google Scholar
[154. GUGLIERI M, BUSHBY K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India, 2008; 56:271-80. 10.4103/0028-3886.4344518974553]Search in Google Scholar