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Centronuclear myopathy
Known as:
myopathy myotubular
, Centronuclear Myopathies
, Myopathy, Centronuclear
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (2)
Congenital Structural Myopathy
Congenital muscular dystrophy (disorder)
Tubular Aggregate Myopathy
Narrower (1)
X-linked centronuclear myopathy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2003
Review
2003
What's new in neuromuscular disorders? The congenital myopathies.
H. Jungbluth
,
C. Sewry
,
F. Muntoni
European journal of paediatric neurology
2003
Corpus ID: 40890476
1996
1996
A follow-up study of congenital non-progressive myopathies
C. Akiyama
,
I. Nonaka
Brain & development (Tokyo. )
1996
Corpus ID: 46449727
Highly Cited
1992
Highly Cited
1992
Vimentin and desmin in maturing skeletal muscle and developmental myopathies
H. Sarnat
Neurology
1992
Corpus ID: 37263920
I studied vimentin and desmin immunoreactivities in the skeletal muscle of 30 human fetuses and children ranging from 8 weeks…
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1992
1992
Development of malignant hyperthermia during mitral valve replacement.
Reed D. Quinn
,
Walter E. Pae
,
Suzan A. McGary
,
G.Scott Wickey
Annals of Thoracic Surgery
1992
Corpus ID: 2672803
1992
1992
Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy
A. K. Misra
,
N. Menon
,
Shri K. Mishra
Muscle and Nerve
1992
Corpus ID: 8146588
We report, for the first time, muscle immunocytochemical studies in sporadic, adult onset myotubular myopathy (SAOMM), which show…
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1991
1991
Centronuclear myopathy heterogeneity
J. A. Sawchak
,
Joanna H. Sher
,
M. Norman
,
R. Kula
,
Saiyid A. Shafiq
Neurology
1991
Corpus ID: 40990498
We studied muscles from 3 patients with centronuclear myopathy (CNM) by immunocytochemistry using myosin heavy chain (MHC…
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Review
1986
Review
1986
Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.
H. Bucher
,
E. Boltshauser
,
Jakob Briner
,
H. Gnehm
,
R. Janzer
Helvetica paediatrica acta
1986
Corpus ID: 31872218
Prenatal onset and rapidly fatal course of centronuclear myopathy are described in four male newborns including two brothers…
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1984
1984
Monoclonal antibodies detect a spectrin-like protein in normal and dystrophic human skeletal muscle.
S. Appleyard
,
M. Dunn
,
V. Dubowitz
,
M. Scott
,
S. Pittman
,
D. Shotton
Proceedings of the National Academy of Sciences…
1984
Corpus ID: 43188351
Spectrin is the major protein of the erythrocyte membrane skeleton, which is bound to the cytoplasmic surface of the membrane's…
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1981
1981
Neonatal Myotubular Myopathy: Neuropathy and Failure of Postnatal Maturation of Fetal Muscle
H. Sarnat
,
Sanford I. Roth
,
J. Jimenez
Canadian Journal of Neurological Sciences…
1981
Corpus ID: 3623338
SUMMARY: The natural course of the pathologic features in striated muscle was studied in a full-term infant with myotubular…
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Review
1970
Review
1970
Familial centronuclear myopathy
W. Bradley
,
D. Price
,
C. Watanabe
Journal of Neurology Neurosurgery & Psychiatry
1970
Corpus ID: 6701036
The clinical and histological features of two Negro brothers with a centronuclear myopathy are described. They bring to 19 the…
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