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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.
Highly Cited
2014
Highly Cited
2014
The cellular and molecular origin of tumor-associated macrophages
R. A. Franklin
,
W. Liao
,
+5 authors
Ming O. Li
Science
2014
Corpus ID: 5262939
Long recognized as an evolutionarily ancient cell type involved in tissue homeostasis and immune defense against pathogens…
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Highly Cited
2014
Highly Cited
2014
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
B. Cowling
,
Thierry Chevremont
,
+7 authors
J. Laporte
Journal of Clinical Investigation
2014
Corpus ID: 7133111
Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal…
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Review
2011
Review
2011
Heat shock proteins
E. Benarroch
Neurology
2011
Corpus ID: 2877794
GLOSSARYAD = Alzheimer disease; Apaf-1 = apoptotic peptidase-activating factor 1; ALS = amyotrophic lateral sclerosis; ATP…
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Review
2008
Review
2008
Centronuclear (myotubular) myopathy
H. Jungbluth
,
C. Wallgren‐Pettersson
,
J. Laporte
Orphanet Journal of Rare Diseases
2008
Corpus ID: 1507895
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy…
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Highly Cited
2007
Highly Cited
2007
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
A. Nicot
,
A. Toussaint
,
+9 authors
J. Laporte
Nature Genetics
2007
Corpus ID: 16861439
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not…
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Highly Cited
2005
Highly Cited
2005
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
I. Splawski
,
K. Timothy
,
+5 authors
M. Keating
Proceedings of the National Academy of Sciences…
2005
Corpus ID: 28317116
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features…
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Highly Cited
2000
Highly Cited
2000
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
M. Dalakas
,
K. Y. Park
,
C. Semino-Mora
,
H. S. Lee
,
K. Sivakumar
,
L. Goldfarb
New England Journal of Medicine
2000
Corpus ID: 28584001
BACKGROUND Myofibrillar myopathies, often referred to as desmin-related myopathies, are a heterogeneous group of inherited or…
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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.
D. Fatkin
,
C. Macrae
,
+13 authors
B. McDonough
New England Journal of Medicine
1999
Corpus ID: 22942654
BACKGROUND Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated…
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Highly Cited
1999
Highly Cited
1999
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
J. Nezu
,
I. Tamai
,
+16 authors
A. Tsuji
Nature Genetics
1999
Corpus ID: 20723174
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive…
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Highly Cited
1998
Highly Cited
1998
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
L. Goldfarb
,
Kye-yoon Park
,
+7 authors
M. Dalakas
Nature Genetics
1998
Corpus ID: 23313873
Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac…
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