Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F.
Ravenscroft G, et al. Among authors: consortium uk.
Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.
Hum Mol Genet. 2018.
PMID: 30215711
Free PMC article.