Results 141 to 150 of about 27,107 (181)
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Nemaline and myotubular myopathies
Seminars in Pediatric Neurology, 2002Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant ...
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Archives of Neurology, 1966
FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.
A J, Spiro, G M, Shy, N K, Gonatas
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FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.
A J, Spiro, G M, Shy, N K, Gonatas
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Myotubular, centronuclear or peri-centronuclear myopathy?
Journal of the Neurological Sciences, 1969Abstract A female child who died at the age of 27 months from an intercurrent pulmonary infection secondary to severe generalised hypotonia, muscular atrophy and weakness, showed clinical and pathological features previously described in patients with myotubular or centronuclear myopathy. She was noted to have multiple extra-ocular palsies and facial
M J, Campbell, J J, Rebeiz, J N, Walton
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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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2011
Abstract This chapter provides pictures and clinical details of MYOTUBULAR ...
Charles E. Schwartz +2 more
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Abstract This chapter provides pictures and clinical details of MYOTUBULAR ...
Charles E. Schwartz +2 more
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Muscle histochemistry in myotubular (centronuclear) myopathy
Brain and Development, 1989We report the clinical and histochemical findings in 7 patients with myotubular (centronuclear) myopathy aged from 2 months to 32 years. The clinical symptoms varied from patient to patient. Three patients developed severe muscle weakness and hypotonia with respiratory distress from infancy, and 4 had muscle weakness from 2-5 years of age with no ...
T, Sasaki +4 more
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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 +3 more
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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 +3 more
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Myotubular (Centronuclear) (Neuro-)Myopathy
European Neurology, 2008Five new cases of myotubular (centronuclear) (neuro-)myopathy are presented. Myometric studies revealed type I fibre atrophy and mispositioned nuclei, at various stages between the myotubular structure and the normal subsarcolemmic position. Certain morphological changes, for instance target structures, suggest denervation involving the fibres in an ...
H. Radu, I. Killyen, V. Ionescu, A. Radu
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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
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Congenital Myotubular Myopathy
2014In 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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