Article
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Proceedings of the National Academy of Sciences of the United States of America - 17 Aug 2010
Beggs Alan H, Böhm Johann, Snead Elizabeth, Kozlowski Marek, Maurer Marie, Minor Katie, Childers Martin K, Taylor Susan M, Hitte Christophe, Mickelson James R, Guo Ling T, Mizisin Andrew P, Buj-Bello Anna, Tiret Laurent, Laporte Jocelyn, Shelton G Diane
Abstract excerpt
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male Labrador Retrievers, age 14-26 wk, were clinically evaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size, centrally placed nuclei resembling fetal myotubes, and subsarcolemmal ringed and central dense areas...
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