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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.
2016
2016
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
2012
2012
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
Highly Cited
2011
Highly Cited
2011
Molecular Pathogenesis of Genetic and Inherited Diseases Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects…
From the Department of Translational Medicine and Neurogenetics,* Institut de Gntique et de Biologie Molculaire et Cellulaire… 
2011
2011
Molecular Pathogenesis of Genetic and Inherited Diseases Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
From the Division of Genetics and Program in Genomics,* Manton Center for Orphan Disease Research, Children’s Hospital Boston… 
2006
2006
Detecting the cytogenetic effects in workers occupationally exposed to vincristine with four genetic tests.
2003
2003
PTEN and myotubularins: families of phosphoinositide phosphatases.
1999
1999
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
1998
1998
Confirmation of prenatal diagnosis results of X‐linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
X‐linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected… 
Review
1995
Review
1995
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Clinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the… 
Highly Cited
1969
Highly Cited
1969
Myotubular, centronuclear or Peri-Centronuclear myopathy?
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