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Centronuclear myopathy

Known as: myopathy myotubular, Centronuclear Myopathies, Myopathy, Centronuclear 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1966-2018
0102019662018

Related topics

Related topics

4 relations

Broader (2)

Congenital Structural MyopathyCongenital muscular dystrophy (disorder)
Tubular Aggregate Myopathy

Narrower (1)

X-linked centronuclear myopathy

Related mentions per year

Related mentions per year

1938-2018
19401960198020002020
Centronuclear myopathy
Congenital muscular dystrophy (disorder)
X-linked centronuclear myopathy
Congenital Structural Myopathy
Tubular Aggregate Myopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of… (More)
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2014
2014
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal… (More)
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2013
2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
OBJECTIVE To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle… (More)
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Highly Cited
2009
Highly Cited
2009
Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations… (More)
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2006
2006
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a… (More)
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Highly Cited
2005
Highly Cited
2005
Mutations in dynamin 2 cause dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular… (More)
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Highly Cited
2000
Highly Cited
2000
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness… (More)
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Highly Cited
2000
Highly Cited
2000
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
The lipid second messenger phosphatidylinositol 3-phosphate [PI(3)P] plays a crucial role in intracellular membrane trafficking… (More)
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Highly Cited
1996
Highly Cited
1996
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired… (More)
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1991
1991
X-linked centronuclear myopathy: mapping the gene to Xq28.
The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized… (More)
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