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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Vydáno v:Hum Mol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
Témata:
General Article
On-line přístup: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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