X-linked centronuclear myopathy

Known as: Myotubular Myopathy, X Linked, X-Linked Centronuclear Myopathies, MTM 
An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic… (More)

Topic mentions per year

Topic mentions per year

1972-2018
05019722018

Papers overview

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2014
2014
Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal… (More)
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2012
2012
Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular… (More)
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Highly Cited
2007
Highly Cited
2007
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not… (More)
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Highly Cited
2003
Highly Cited
2003
Introduction: The Mars Transverse Mercator (MTM) Map Series has been used to publish geologic and controlled pho-tomosaic maps of… (More)
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2003
2003
We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM… (More)
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Highly Cited
1996
Highly Cited
1996
X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired… (More)
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1993
1993
ABSTRACT: The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by… (More)
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1991
1991
The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized… (More)
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1990
1990
Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular… (More)
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1987
1987
Two families with X-linked recessive centro-nuclear myopathy (XLR-CNM) are described. Evidence is accumulating that XLR-CNM forms… (More)
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