A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

1Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, et al. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. Neuromuscul Disord. 2017; 27(2): 136-140.10.1016/j.nmd.2016.11.01428024842AharoniSSadehMShapiraYEdvardsonSDaanaMDor-WollmanTet alCongenital myasthenic syndrome in Israel: Genetic and clinical characterizationNeuromuscul Disord2017272136140Open DOISearch in Google Scholar

2Cruz PMR, Palace J, Beeson D. Congenital myasthenic syndromes and the neuromuscular junction. Curr Opin Neurol. 2014; 27(5): 566-575.10.1097/WCO.000000000000013425159927CruzPMRPalaceJBeesonDCongenital myasthenic syndromes and the neuromuscular junctionCurr Opin Neurol2014275566575Open DOISearch in Google Scholar

3Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Delia Marina A, et al. Congenital myasthenic syndromes: Achievements and limitations of phenotype guided gene after gene sequencing in diagnostic practice: A study of 680 patients. Hum Mutat. 2012; 33(10): 1474-1484.10.1002/humu.22130AbichtADuslMGallenmüllerCGuergueltchevaVScharaUDeliaMarina Aet alCongenital myasthenic syndromes: Achievements and limitations of phenotype guided gene after gene sequencing in diagnostic practice: A study of 680 patientsHum Mutat2012331014741484Open DOISearch in Google Scholar

4Beeson D. Congenital myasthenic syndromes: Recent advances. Curr Opin Neurol. 2016; 29(5): 565-571.2747250610.1097/WCO.0000000000000370BeesonDCongenital myasthenic syndromes: Recent advancesCurr Opin Neurol2016295565571Search in Google Scholar

5Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248-249.10.1038/nmeth0410-24820354512AdzhubeiIASchmidtSPeshkinLRamenskyVEGerasimovaABorkPet alA method and server for predicting damaging missense mutationsNat Methods201074248249Open DOISearch in Google Scholar

6Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: Mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4): 361-362.10.1038/nmeth.289024681721SchwarzJMCooperDNSchuelkeMSeelowDMutationTaster2: Mutation prediction for the deep-sequencing ageNat Methods2014114361362Open DOISearch in Google Scholar

7Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003; 31(13): 3812-3814.10.1093/nar/gkg50912824425NgPCHenikoffSSIFT: Predicting amino acid changes that affect protein functionNucleic Acids Res2003311338123814Open DOISearch in Google Scholar

8Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5): 405-424.2574186810.1038/gim.2015.30RichardsSAzizNBaleSBickDDasSGastier-FosterJet alStandards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenet Med2015175405424Search in Google Scholar

9Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res. 2001; 29(1): 308-311.1112512210.1093/nar/29.1.308SherrySTWardMHKholodovMBakerJPhanLSmigielskiEMet aldbSNP: The NCBI database of genetic variationNucleic Acids Res2001291308311Search in Google Scholar

10Abecasis GR, Altshuler D, Authon A, Brooks LD, Durbin RM, Gibbs RA; 1000 Genomes Project Consortium, et al. A map of human genome variation from population-scale sequencing. Nature. 2010; 467(7319): 1061-1073.AbecasisGRAltshulerDAuthonABrooksLDDurbinRMGibbsRA;1000Genomes Project Consortium, et al. A map of human genome variation from population-scale sequencingNature201046773191061107310.1038/nature09534Search in Google Scholar

11Ohno K, Ohkawara B, Ito M. Recent advances in congenital myasthenic syndromes. Clin Exp Neuro-immunol. 2016; 7(3): 246-259.OhnoKOhkawaraBItoMRecent advances in congenital myasthenic syndromesClin Exp Neuro-immunol20167324625910.1111/cen3.12316Search in Google Scholar

12McMacken G, Abicht A, Evangelista Τ, Spendiff S, Lochmuller H, Soltanzadeh A. The increasing genetic and phenotypical diversity of congenital myasthenic syndromes. Neuropediatrics. 2017; 48(04): 294-308.2850567010.1055/s-0037-1602832McMackenGAbichtAEvangelistaΤSpendiffSLochmullerHSoltanzadehAThe increasing genetic and phenotypical diversity of congenital myasthenic syndromesNeuropediatrics20174804294308Search in Google Scholar

13Soltanzadeh P, Müller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A. An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). J Neural Neurosurg Psychiatry. 2005; 76(7): 1039-1040.10.1136/jnnp.2004.059436SoltanzadehPMüllerJSGhorbaniAAbichtALochmullerHSoltanzadehAAn Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)J Neural Neurosurg Psychiatry200576710391040Open DOISearch in Google Scholar

14Natera-de Benito D, Dominguez-Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, et al. Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. Neuro-muscul Disord. 2016; 26(11): 789-795.Natera-deBenito DDominguez-CarralJMuelasNNascimentoAOrtezCJaijoTet alPhenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutationA long-term follow-up. Neuro-muscul Disord2016261178979510.1016/j.nmd.2016.08.005Search in Google Scholar

15Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, et al. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology. 2008; 71(24): 1967-1972.10.1212/01.wnl.0000336921.51639.0b19064877RichardPGaudonKHaddadHAmmarABGeninEBauchéSet alThe CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North AfricaNeurology2008712419671972Open DOISearch in Google Scholar