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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
General Article
Acesso em linha: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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