FAQ

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

Related topics

Related topics

16 relations
Byzanthine arch palateCryptorchidismDecreased fetal movementDiaphragmatic Eventration
(More)

Broader (2)

Centronuclear myopathyCongenital Structural Myopathy

Related mentions per year

Related mentions per year

1936-2019
19401960198020002020
X-linked centronuclear myopathy
soft tissue
Skeletal bone
Cryptorchidism
Pyloric Stenosis
Polyhydramnios

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2012
2012
Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice
Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular… (More)
Is this relevant?
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… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Lunar and Planetary Science XXXIV ( 2003 ) 1371 . pdf
Introduction: The Mars Transverse Mercator (MTM) Map Series has been used to publish geologic and controlled pho-tomosaic maps of… (More)
Is this relevant?
2003
2003
X-linked centronuclear myopathy.
We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM… (More)
Is this relevant?
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)
Is this relevant?
1993
1993
Prenatal Diagnosis of X-Linked Centronuclear Myopathy by Linkage Analysis
ABSTRACT: The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by… (More)
  • figure I
  • figure 2
Is this relevant?
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)
Is this relevant?
1990
1990
Severe neonatal asphyxia due to X-linked centronuclear myopathy
Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular… (More)
  • table 1
  • figure 1
  • figure 3
Is this relevant?
1987
1987
X-linked centronuclear myopathy as a cause of floppy baby.
Two families with X-linked recessive centro-nuclear myopathy (XLR-CNM) are described. Evidence is accumulating that XLR-CNM forms… (More)
Is this relevant?