congenital muscle disorder

 

Topic mentions per year

Topic mentions per year

1998-2017
01219982017

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… (More)
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2013
2013
Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death… (More)
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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… (More)
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2006
2006
X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder caused by mutations in the MTM1 gene. Affected males usually… (More)
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2005
2005
X-linked myotubular myopathy is a congenital muscle disorder due to MTM1 mutation, and is characterized clinically by generalized… (More)
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2001
2001
Peliosis hepatis is a rare entity that can affect children and cause fatal hepatic hemorrhage or hepatic failure. Radiographic… (More)
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1999
1999
X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly affecting newborn males. Neonatal muscle weakness and… (More)
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1999
1999
X-linked myotubular myopathy (XLMTM; OMIM310400) is a congenital muscle disorder characterized by severe hypotonia and… (More)
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1998
1998
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disorder due to mutations in the MTM1 gene. The corresponding… (More)
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1998
1998
MTM1 is responsible for X-linked recessive myotubular myopathy, which is a congenital muscle disorder linked to Xq28. MTM1 is… (More)
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