Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Ravenscroft, G; Zaharieva, I; Bortolotti, CA; Lambrughi, M; Pignataro, M; Borsari, M; Sewry, CA; ... Muntoni, F; + view all Ravenscroft, G; Zaharieva, I; Bortolotti, CA; Lambrughi, M; Pignataro, M; Borsari, M; Sewry, CA; Phadke, R; Haliloglu, G; Ong, R; Goullée, H; Whyte, T; UK10K Consortium, ; Manzur, A; Talim, B; Kaya, U; Osborn, DP; Forrest, A; Laing, NG; Muntoni, F; - view fewer (2018) Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Human Molecular Genetics 10.1093/hmg/ddy320 . (In press).

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