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congenital muscle disorder

National Institutes of Health

Papers overview

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2015
2015
Maintenance of skeletal muscle structure and function requires a precise stoichiometry of sarcomeric proteins for proper assembly… 
2015
2015
We previously reported in Science Translational Medicine ( STM ) unprecedented results (1) from gene replacement experiments in… 
2013
2013
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and… 
2011
2011
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male… 
2009
2009
We read with great attention Professor Michael Schroder’s letter on ‘‘necklace’’ fibers as a late clue to the interpretation of… 
Review
2000
Review
2000
X‐linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene…