MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

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...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2010
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930454/
https://ncbi.nlm.nih.gov/pubmed/20682747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1003677107
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