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Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2010 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 20, no 1, 53-56 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2010. Vol. 20, no 1, 53-56 p.
Keyword [en]
Amphiphysin, Centronuclear myopathy, Charcot-Marie-Tooth neuropathy, Congenital myopathy, DNM2, Dynamin 2, GTPase, Mutation, Myotubular myopathy, Myotubularin, Neonatal, Pleckstrin homology, RYR1
National Category
Medical and Health Sciences
Research subject
Neurology
Identifiers
URN: urn:nbn:se:uu:diva-112944DOI: 10.1016/j.nmd.2009.10.006ISI: 000274772600008PubMedID: 19932619OAI: oai:DiVA.org:uu-112944DiVA: diva2:289092
Available from: 2010-01-22 Created: 2010-01-22 Last updated: 2010-12-21Bibliographically approved

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