Article
Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.
American journal of medical genetics. Part A - 1 Dec 2011
Martinez Hugo R, Pignatelli Ricardo, Belmont John W, Craigen William J, Jefferies John L
Abstract excerpt
Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked disorders that result from a mutation in the dystrophin gene that reduces the production or effectiveness of the protein dystrophin. These disorders are clinically characterized by progressive muscle degeneration. Manifesting female carriers are generally not identified as such until after puberty, when symptoms such as muscle weakness may...
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