Article
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Neuromuscular disorders : NMD - 1 Apr 2011
Ortolano Saida, Tarrío Rosa, Blanco-Arias Patricia, Teijeira Susana, Rodríguez-Trelles Francisco, García-Murias María, Delague Valerie, Lévy Nicolas, Fernández José M, Quintáns Beatriz, Millán Beatriz San, Carracedo Angel, Navarro Carmen, Sobrido María-Jesús
Abstract excerpt
This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and genetic sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7, which encodes the slow/β-cardiac myosin heavy chain. This mutation causes skeletal but not...
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