Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, ∼50% of patients with a congenital myopathy remain without a genetic diagnosis following screening of known disease genes. We performed exom...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2018
Gaiak:
General Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6540289/
https://ncbi.nlm.nih.gov/pubmed/30215711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy320
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