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X-linked centronuclear myopathy
Known as:
Myotubular Myopathy, X Linked
, X-Linked Centronuclear Myopathies
, MTM
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An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic…
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National Institutes of Health
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Related topics
Related topics
18 relations
Byzanthine arch palate
Connective and Soft Tissue
Cryptorchidism
Decreased fetal movement
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Broader (2)
Centronuclear myopathy
Congenital 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
H. Akman
,
Yavuz Aykıt
,
+6 authors
G. Marrosu
Neuromuscular Disorders
2016
Corpus ID: 30346726
2012
2012
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
M. Jarraya
,
S. Quijano-roy
,
+11 authors
R. Carlier
Neuromuscular Disorders
2012
Corpus ID: 6185802
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…
B. Cowling
,
A. Toussaint
,
+6 authors
J. Laporte
2011
Corpus ID: 31454390
From the Department of Translational Medicine and Neurogenetics,* Institut de Gntique et de Biologie Molculaire et Cellulaire…
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2011
2011
Molecular Pathogenesis of Genetic and Inherited Diseases Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
M. Lawlor
,
B. P. Read
,
+8 authors
A. Beggs
2011
Corpus ID: 25992044
From the Division of Genetics and Program in Genomics,* Manton Center for Orphan Disease Research, Children’s Hospital Boston…
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2006
2006
Detecting the cytogenetic effects in workers occupationally exposed to vincristine with four genetic tests.
Deng Hongping
,
Lou Jian-lin
,
+6 authors
He Ji-liang
Mutation research
2006
Corpus ID: 35237695
2003
2003
PTEN and myotubularins: families of phosphoinositide phosphatases.
G. Taylor
,
J. Dixon
Methods in Enzymology
2003
Corpus ID: 39322486
1999
1999
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
S. M. Tanner
,
V. Schneider
,
N. Thomas
,
A. Clarke
,
L. Lazarou
,
S. Liechti‐Gallati
Neuromuscular Disorders
1999
Corpus ID: 10574620
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
S. M. Tanner
,
J. Laporte
,
C. Guiraud‐Chaumeil
,
S. Liechti‐Gallati
Human Mutation
1998
Corpus ID: 39568857
X‐linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected…
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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.
Carina Wallgren-Pettersson
,
A. Clarke
,
+6 authors
Peter G. Barth
Journal of Medical Genetics
1995
Corpus ID: 2479316
Clinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the…
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Highly Cited
1969
Highly Cited
1969
Myotubular, centronuclear or Peri-Centronuclear myopathy?
M. J. Campbell
,
J. Rebeiz
,
J. Walton
Journal of Neurological Sciences
1969
Corpus ID: 12332012
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