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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Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2018
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General Article
Online toegang: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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