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MUSCLE FUNCTION IN A CANINE MODEL OF X-LINKED MYOTUBULAR MYOPATHY

INTRODUCTION: We established a colony of dogs that harbor an X-linked MTM1 missense mutation. Muscle from affected male dogs exhibits reduction and altered localization of the MTM1 gene product, myotubularin, and provides a model analogous to X-linked myotubular myopathy (XLMTM). METHODS: We studied...

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Hlavní autoři: Grange, Robert W., Doering, Jon, Mitchell, Erin, Holder, Melanie N., Guan, Xuan, Goddard, Melissa, Tegeler, Christopher, Beggs, Alan H., Childers, Martin K.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3448125/
https://ncbi.nlm.nih.gov/pubmed/22987702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.23463
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