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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… Expand
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2015
2015
We previously reported in Science Translational Medicine ( STM ) unprecedented results (1) from gene replacement experiments in… Expand
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Highly Cited
2013
Highly Cited
2013
Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death… Expand
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2013
2013
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and… Expand
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2011
2011
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male… Expand
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2009
2009
We read with great attention Professor Michael Schroder’s letter on ‘‘necklace’’ fibers as a late clue to the interpretation of… Expand
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2004
2004
SUMMARY Myotonia congenita is a rare congenital muscle disorder in horses characterized by myotonia, electromyographic changes… Expand
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Review
2000
Review
2000
X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene… Expand
Is this relevant?