Article
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Human molecular genetics - 15 Dec 2018
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 Uk K, Manzur Adnan, Talim Beril, Kaya Ulkuhan, Osborn Daniel P S, Forrest Alistair R R, Laing Nigel G, Muntoni Francesco
Abstract excerpt
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 exome sequencing on two consanguineous probands diagnosed with a congenital myopathy and muscle biopsy showing selective...
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