Skip to search formSkip to main contentSkip to account menu
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Long recognized as an evolutionarily ancient cell type involved in tissue homeostasis and immune defense against pathogens… Expand
Review
2011
Review
2011
GLOSSARYAD = Alzheimer disease; Apaf-1 = apoptotic peptidase-activating factor 1; ALS = amyotrophic lateral sclerosis; ATP… Expand
  • figure 1
  • figure 2
  • table 1
  • table 2
Review
2010
Review
2010
  • N. Romero
  • Neuromuscular Disorders
  • 2010
  • Corpus ID: 5825136
Centronuclear myopathies (CNM) are a group of congenital myopathies classically defined by the presence of an abnormally high… Expand
Review
2008
Review
2008
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy… Expand
  • table 1
Highly Cited
2007
Highly Cited
2007
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2005
Highly Cited
2005
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features… Expand
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Highly Cited
2000
Highly Cited
2000
BACKGROUND Myofibrillar myopathies, often referred to as desmin-related myopathies, are a heterogeneous group of inherited or… Expand
Highly Cited
1999
Highly Cited
1999
BACKGROUND Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated… Expand
  • figure 2
  • table 1
  • figure 3
  • figure 4
  • figure 5
Highly Cited
1999
Highly Cited
1999
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 6
  • figure 4
Highly Cited
1998
Highly Cited
1998
Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac… Expand
  • figure 1
  • figure 2