Article
Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy.
The Yale journal of biology and medicine - 1 Sept 2017
Nghiem Peter P, Bello Luca, Stoughton William B, López Sara Mata, Vidal Alexander H, Hernandez Briana V, Hulbert Katherine N, Gourley Taylor R, Bettis Amanda K, Balog-Alvarez Cynthia J, Heath-Barnett Heather, Kornegay Joe N
Abstract excerpt
Duchenne muscular dystrophy (DMD) is an X-chromosome-linked disorder and the most common monogenic disease in people. Affected boys are diagnosed at a young age, become non-ambulatory by their early teens, and succumb to cardiorespiratory failure by their thirties. Despite being a monogenic condition resulting from mutations in the DMD gene, affected boys have noteworthy phenotypic variability. Efforts have...
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