期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 1, 页码 53-56出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2009.10.006
关键词
DNM2; Dynamin 2; Pleckstrin homology; GTPase; Mutation; Congenital myopathy; Centronuclear myopathy; Myotubular myopathy; Charcot-Marie-Tooth neuropathy; Myotubularin; Amphiphysin; RYR1; Neonatal
资金
- Selander foundation
- Uppsala University Hospital
- Helsinki University Hospital
- Sigrid Juselius Foundation
- Academy of Finland
- Association Francaise contre les Myopathies (AFM)
- Finska Lakaresallskapet
- Medicinska understodsforeningen Liv och Halsa
- Fondation Recherche Medicale
- GIS Institut Maladies Rares
- Agence Nationale de la Recherche
We report a family with autosomal dominant centronuclear (myotubular) myopathy caused by a novel mutation, p.A618D, in dynamin 2 (DNM2). The 64-year-old mother and 26-year-old daughter had neonatal onset with hypotonia and weak suckling, followed by improvement, then slowly progressive muscle weakness and respiratory restriction. Muscle biopsy showed radial sarcoplasmic strands around the frequent central nuclei. Electrophysiology revealed predominantly myopathic patterns without peripheral nerve involvement. Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear myopathy. We advise respiratory follow-up in these patients. (C) 2009 Elsevier B.V. All rights reserved.
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