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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… 
National Institutes of Health

Related topics

Related topics

18 relations
Byzanthine arch palateConnective and Soft TissueCryptorchidismDecreased fetal movement

Broader (2)

Centronuclear myopathyCongenital Structural Myopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
The cellular and molecular origin of tumor-associated macrophages
Long recognized as an evolutionarily ancient cell type involved in tissue homeostasis and immune defense against pathogens… 
Highly Cited
2014
Highly Cited
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… 
Review
2011
Review
2011
Heat shock proteins
GLOSSARYAD = Alzheimer disease; Apaf-1 = apoptotic peptidase-activating factor 1; ALS = amyotrophic lateral sclerosis; ATP… 
Review
2008
Review
2008
Centronuclear (myotubular) myopathy
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy… 
Highly Cited
2007
Highly Cited
2007
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not… 
Highly Cited
2005
Highly Cited
2005
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features… 
Highly Cited
2000
Highly Cited
2000
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
BACKGROUND Myofibrillar myopathies, often referred to as desmin-related myopathies, are a heterogeneous group of inherited or… 
Highly Cited
1999
Highly Cited
1999
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
BACKGROUND Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated… 
Highly Cited
1999
Highly Cited
1999
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive… 
Highly Cited
1998
Highly Cited
1998
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac… 
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