Article
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Brain : a journal of neurology - 1 Dec 2011
Nguyen Mai-Anh T, Joya Josephine E, Kee Anthony J, Domazetovska Ana, Yang Nan, Hook Jeff W, Lemckert Frances A, Kettle Emma, Valova Valentina A, Robinson Philip J, North Kathryn N, Gunning Peter W, Mitchell Christina A, Hardeman Edna C
Abstract excerpt
Nemaline myopathy, the most common congenital myopathy, is caused by mutations in genes encoding thin filament and thin filament-associated proteins in skeletal muscles. Severely affected patients fail to survive beyond the first year of life due to severe muscle weakness. There are no specific therapies to combat this muscle weakness. We have generated the first knock-in mouse model for severe nemaline myopathy...
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