Results 161 to 170 of about 2,741 (208)

[Myotubular myopathy].

Revue neurologique, 2001
The myotubular myopathy is an X-linked centronuclear myopathy characterized by severe neonatal hypotonia and generalized muscle weakness which most frequently results in the premature death of the newborn infants by respiratory failure. The characteristic muscle histopathology consists in centrally positioned nuclei in most muscle fibers.
C, Guiraud-Chaumeil, J, Laporte, J L, Mandel, J M, Warter   +3 more
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X-linked myotubular myopathy

Neurology, 2017
The congenital myopathies (CMs) are a cluster of genetic disorders affecting myofiber structure and function. The salient clinical features are hypotonia, weakness, and motor impairment. The presentation varies from the most severe impairment in the newborn to a range of phenotypes in infancy (“floppy baby”), childhood, or occasionally adulthood.
Richard S, Finkel, Basil T, Darras
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Congenital Myotubular Myopathy

2014
In 1966, Spiro et al. suggested the name myotubular myopathy for the histological changes observed in the biopsies from a 12-year-old boy because of the striking resemblance to the myotubes in fetal muscle. Myotubes are long, cylindrical, multinucleated cells, formed by the fusion of myoblasts.
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MTM1 mutations in X-linked myotubular myopathy

Human Mutation, 2000
X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosphatase Sbf1/hMTMR5).
J, Laporte, V, Biancalana, S M, Tanner, W, Kress, V, Schneider, C, Wallgren-Pettersson, F, Herger, A, Buj-Bello, F, Blondeau, S, Liechti-Gallati, J L, Mandel   +10 more
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Germline mosaicism in X‐linked myotubular myopathy

Clinical Genetics, 1999
X‐linked myotubular myopathy (XLMTM; OMIM310400) is a congenital muscle disorder characterized by severe hypotonia and respiratory insufficiency. The disorder was mapped to Xq28 by linkage studies and the MTM1 gene was isolated by positional cloning. The gene product is a 603 amino acid protein named myotubularin.
B G, Häne, R C, Rogers, C E, Schwartz
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X‐linked myotubular myopathy: a linkage study

Clinical Genetics, 1990
Two families with the congenital X‐linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X‐chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero.
C, Darnfors, H E, Larsson, A, Oldfors, M, Kyllerman, K H, Gustavson, G, Bjursell, J, Wahlström   +6 more
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X-linked myotubular myopathy and chylothorax

Neuromuscular Disorders, 2008
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with ...
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Myotubular myopathy: morphological, immunohistochemical and clinical variation

Neuromuscular Disorders, 1998
Myotubular myopathy frequently presents in male infants with severe generalised muscular hypotonia and weakness associated with ventilatory insufficiency, and is diagnosed on biopsy by the presence of many fibres with central nuclei and mitochondrial aggregation.
T R, Helliwell, I H, Ellis, R E, Appleton   +2 more
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Myotubular myopathy

Journal of the Neurological Sciences, 1969
B, Badurska, A, Fidziańska, Z, Kamieniecka, J, Prot, H, Strugalska   +4 more
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Myotubular Myopathy

Archives of Neurology, 1968
M, Kinoshita, T E, Cadman
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