Results 151 to 160 of about 25,797 (180)

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
openaire   +2 more sources

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
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 myopathies: A widening concept

Neuromuscular Disorders, 2010
Centronuclear myopathies (CNM) are a group of congenital myopathies classically defined by the presence of an abnormally high number of muscle fibres with nuclei organised in rows in the central part of the fibre. Over recent years there have been important advances in the knowledge of the genetic bases of the three main forms of CNM: the X-linked ...
openaire   +2 more sources

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

Centronuclear Myopathies

2013
Centronuclear myopathies are inherited disorders characterized by a high incidence of centralized and/or internalized nuclei placed in rows in the muscle fibers. Patients present with a diversity of clinical phenotypes from severe neonatal to adult-onset forms.
Romero, Norma Beatriz, Laporte, Jocelyn
openaire   +1 more source

Centronuclear Myopathy with Unusual Clinical Picture

European Neurology, 2008
The authors describe two cases of familial muscle disease, a mother and her daughter, characterized by centrally placed nuclei and a predominance of hypotrophic type 1 fibers. Clinically the patients exhibited a muscular weakness and atrophy localized mainly distally. Both showed hypertrophy of their calves.
M G, Lovaste, D, Aldovini, G, Ferrari
openaire   +2 more sources

Centronuclear Myopathy

European Neurology, 2008
J, Bethlem, A E, Meijer, J P, Schellens, J J, Vroom   +3 more
openaire   +2 more sources

A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy

Developmental Cell, 2020
David C. Rubinsztein, kamel Mamchaoui, Marco M Manni   +2 more
exaly  

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain, 2014
Montse Olive, Edoardo Malfatti, Johann Böhm   +2 more
exaly