This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Chauveau C, Rowell J, Ferreiro A. A Rising Titan: TTN Review and Mutation Update. Human Mutation. 2014;35(9):1046–59.ChauveauCRowellJFerreiroAA Rising Titan: TTN Review and Mutation Update2014359104659Search in Google Scholar
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, et al. Genotype–phenotype correlations in recessive titinopathies. Genetics in Medicine. 2020;22(12):2029–40.SavareseMViholaAOatesECBarresiRFiorilloCTascaGGenotype–phenotype correlations in recessive titinopathies20202212202940Search in Google Scholar
Hackman P, Savarese M, Carmignac V, Udd B, Salih MA. Salih Myopathy. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; January 12, 2012.HackmanPSavareseMCarmignacVUddBSalihMASalih MyopathyIn:AdamMPFeldmanJMirzaaGMeds.Seattle (WA)University of Washington, SeattleJanuary122012Search in Google Scholar
Anandakrishnan P, Sivabalakrishnan J. Early presentation of cardiac dysfunction in Salih myopathy. Neuromuscul Disord. 2021;31(1):S159.AnandakrishnanPSivabalakrishnanJEarly presentation of cardiac dysfunction in Salih myopathy2021311S159Search in Google Scholar
Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61(4):340–51.CarmignacVSalihMAQuijano-RoySMarchandSAl RayessMMMukhtarMMC-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy200761434051Search in Google Scholar
Madavi M, Mohsen-Pour N, Maleki M, Hesami M, Naderi N, Houshmand G, et al. Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family. Cardiol Young. 2022;32(9):1462–7.MadaviMMohsen-PourNMalekiMHesamiMNaderiNHoushmandGWhole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family202232914627Search in Google Scholar
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81(14):1205–14.Ceyhan-BirsoyOAgrawalPBHidalgoCSchmitz-AbeKDeCheneETSwansonLCRecessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy20138114120514Search in Google Scholar
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24(4):289–311.BönnemannCGWangCHQuijano-RoySDeconinckNBertiniEFerreiroADiagnostic approach to the congenital muscular dystrophies2014244289311Search in Google Scholar
Chauveau C, Bonnemann C, Julien C, Kho A, Marks H, Talim B, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Molec Genet. 2014;23:980–91.ChauveauCBonnemannCJulienCKhoAMarksHTalimBRecessive TTN truncating mutations define novel forms of core myopathy with heart disease20142398091Search in Google Scholar
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018(6):1105–24.OatesECJonesKJDonkervoortSCharltonABrammahSSmithJE3rdCongenital Titinopathy: Comprehensive characterization and pathogenic insights20186110524Search in Google Scholar
Kadiri YE, Ratbi I, Lyahyai J, Sefiani A. M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature [Internet]. Available from: https://scite.ai/reports/m-line-ttn-mutations-insalih-OVEaaPAj.KadiriYERatbiILyahyaiJSefianiAAvailable from: https://scite.ai/reports/m-line-ttn-mutations-insalih-OVEaaPAj.Search in Google Scholar
Kadiri EY, Ratbi I, Sefiani A, Lyahyai J. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature. Gene Reports. 2022(27):101587.KadiriEYRatbiISefianiALyahyaiJClinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature202227101587Search in Google Scholar
Subahi SA. Distinguishing Cardiac Features of a Novel Form of Congenital Muscular Dystrophy (Salih cmd). Pediatr Cardiol. 2001;22(4):297–301.SubahiSADistinguishing Cardiac Features of a Novel Form of Congenital Muscular Dystrophy (Salih cmd)2001224297301Search in Google Scholar