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Adult course in dyn...
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Melberg, AtleUppsala universitet,Neurologi
(author)
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
- Article/chapterEnglish2010
Publisher, publication year, extent ...
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Elsevier BV,2010
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-112944
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-112944URI
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https://doi.org/10.1016/j.nmd.2009.10.006DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
Subject headings and genre
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Amphiphysin
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Centronuclear myopathy
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Charcot-Marie-Tooth neuropathy
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Congenital myopathy
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DNM2
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Dynamin 2
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GTPase
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Mutation
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Myotubular myopathy
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Myotubularin
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Neonatal
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Pleckstrin homology
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RYR1
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MEDICINE
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MEDICIN
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Neurology
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Neurologi
Added entries (persons, corporate bodies, meetings, titles ...)
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Kretz, Christine
(author)
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Kalimo, HannuUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)hakal227
(author)
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Wallgren-Pettersson, Carina
(author)
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Toussaint, Anne
(author)
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Böhm, Johann
(author)
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Stålberg, ErikUppsala universitet,Klinisk neurofysiologi(Swepub:uu)eriksb
(author)
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Laporte, Jocelyn
(author)
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Uppsala universitetNeurologi
(creator_code:org_t)
Related titles
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In:Neuromuscular Disorders: Elsevier BV20:1, s. 53-560960-89661873-2364
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