Results 131 to 140 of about 7,553,951 (168)
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Russian neurological journal, 2023
Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory
L. B. Novikova +4 more
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Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory
L. B. Novikova +4 more
openaire +1 more source
X-Linked Myotubular Myopathy Due to a Complex Rearrangement Involving a Duplication of MTM1 Exon 10
Neuromuscular Disorders, 2012 X-linked myotubular myopathy is a predominantly severe congenital myopathy with central nuclei on muscle biopsy due to mutations in the MTM1 gene encoding myotubularin. We report a boy with typical features of X-linked myotubular myopathy.
Heinz Jungbluth +2 more
exaly +2 more sources
General Anesthesia in an Infant With X-Linked Myotubular Myopathy
Paediatric Anaesthesia, 2004SummaryWe present a 20‐week‐old infant with the X‐linked form of myotubular myopathy who required anesthesia for a Nissen fundoplication procedure where the response to nondepolarizing neuromuscular blockade was evaluated.
David Costi
exaly +3 more sources
X-Linked Neonatal Myotubular Myopathy
Southern Medical Journal, 1984We have described a family with X-linked myotubular myopathy that was clinically manifest in the neonatal period and compared it with the clinical picture and course of the disease in similar reported cases. Clinical expression of the disease in the newborn period is not always lethal.
G P, Giacoia, J E, Hale
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X-Linked Myotubular Myopathy: A Linkage Study
Clinical Genetics, 1990Two 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.
Anders Oldfors +2 more
exaly +3 more sources
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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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
openaire +2 more sources
MTM1 mutations in X-linked myotubular myopathy
Human Mutation, 2000X-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).
Laporte, Jocelyn +10 more
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Germline mosaicism in X‐linked myotubular myopathy
Clinical Genetics, 1999X‐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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Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy
Neuromuscular Disorders, 2002X-linked myotubular myopathy is a severe congenital myopathy that presents in the neonatal period with profound hypotonia and an inability to establish spontaneous respiration. Usually death occurs in infancy from respiratory failure. However, there is phenotypic variability; a number of affected boys have achieved respiratory independence and become ...
Mark A. Little +2 more
exaly +4 more sources
Myotubular X-linked myopathy. Clinical case
Practical medicine, 2023Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months at Psychoneurological Department No.
L. B. NOVIKOVA +4 more
openaire +1 more source