A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del)
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Springer Science and Business Media LLC
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https://link.springer.com/content/pdf/10.1007/s13258-024-01502-0.pdf
Reference29 articles.
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3. Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D et al (2020) Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. Acta Neuropathol Commun 8:142. https://doi.org/10.1186/s40478-020-01017-1
4. D’Amico A, Fattori F, Fiorillo C, Paglietti MG, Testa MBC, Verardo M, Catteruccia M et al (2019) Amish nemaline myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. Neuromuscul Disord 29:766–770. https://doi.org/10.1016/j.nmd.2019.09.005
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