Results 161 to 170 of about 2,881 (205)

Familial centronuclear myopathy

Acta Neurologica Scandinavica, 2009
A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.
L, Pavone, F, Mollica, A, Grasso, G, Pero   +3 more
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Myotubular, centronuclear or peri-centronuclear myopathy?

Journal of the Neurological Sciences, 1969
Abstract 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 Centronuclear Myopathy

American Journal of Perinatology, 2003
We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth.
Hueng-Chuen, Fan, Chuen-Ming, Lee, Horng-Jyh, Harn, Shin-Nan, Cheng, Yeong-Seng, Yuh   +4 more
openaire   +2 more sources

Anasthesia in myotubular (centronuclear) myopathy

Anaesthesia, 2000
A patient with a known history of myotubular myopathy presented for surgery for insertion of a tibial nail. Anasthesia was induced and maintained using an intravenous anasthetic technique. Neuromuscular function was assessed using mechanomyography, which showed a profound reduction in muscle contractility.
D, Breslin, J, Reid, A, Hayes, R K, Mirakhur   +3 more
openaire   +2 more sources

A case of centronuclear myopathy

Zeitschrift f�r Neurologie, 1973
The paper presents the clinical features and laboratory data of a 6-year-old boy with centronuclear myopathy. No familial susceptibility was disclosed. The clinical signs are displayed with a congenital foot deformity and with the child's beginning to walk further symptoms and signs appeared.
I, Lolova, T, Bojinova, N, Kilimov, A, Gerchev   +3 more
openaire   +2 more sources

Familial x-linked centronuclear myopathy

Irish Journal of Medical Science, 1986
The clinical and neurological findings in two siblings who died with congenital centronuclear myopathy are described. Family history indicates that this disorder was probably inherited in an X-linked recession fashion. Details of investigations on other family members are described.
M, Quinn, J, McMenamin, J, Dinn, E, Griffin, J, Cosgrove   +4 more
openaire   +2 more sources

Centronuclear myopathy with autosomal dominant inheritance

Journal of the Neurological Sciences, 1972
Abstract A family with a muscular dystrophy affecting 16 members over 5 generations is described. Muscle wasting affected predominantly proximal muscles, but in some cases facial and distal muscles were also involved. The disease was slowly progressive and compatible with a normal life span. Muscle biopsies were performed on 2 patients. Type I fibres
J G, McLeod, W de C, Baker, A K, Lethlean, C D, Shorey   +3 more
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Myotonia in DNM2-related centronuclear myopathy

Journal of Neural Transmission, 2013
Centronuclear myopathy (CNM) is a rare hereditary myopathy characterized by centrally located muscle fiber nuclei. Mutations in the dynamin 2 (DNM2) gene are estimated to account for about 50 % of CNM cases. Electromyographic recordings in CNM may show myopathic motor unit potentials without spontaneous activity at rest.
Ron, Dabby, Menachem, Sadeh, Ronit, Gilad, Karin, Jurkat-Rott, Frank, Lehmann-Horn, Esther, Leshinsky-Silver   +5 more
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Myotubular (Centronuclear) (Neuro-)Myopathy

European Neurology, 1977
Five 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 ...
H. Radu, I. Killyen, V. Ionescu, A. Radu
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Muscle histochemistry in myotubular (centronuclear) myopathy

Brain and Development, 1989
We 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, K, Shikura, K, Sugai, I, Nonaka, K, Kumagai   +4 more
openaire   +2 more sources