Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

Neuromuscular Disorders : NMD
Atle MelbergJocelyn Laporte

Abstract

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.

References

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Oct 18, 2005·Nature Genetics·Marc BitounPascale Guicheney
Apr 6, 2006·Brain : a Journal of Neurology·Dirk FischerNorma B Romero
Sep 30, 2006·Human Molecular Genetics·Valérie ToschJocelyn Laporte
Dec 1, 2006·Neuromuscular Disorders : NMD·Joachim SchesslCarsten G Bönnemann
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Oct 13, 2007·Annals of Neurology·Marc BitounPascale Guicheney
Sep 27, 2008·Orphanet Journal of Rare Diseases·Heinz JungbluthJocelyn Laporte

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Citations

May 24, 2012·European Journal of Human Genetics : EJHG·Valérie BiancalanaJocelyn Laporte
Dec 29, 2013·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·F HanischM Kornhuber
Aug 14, 2013·Revue neurologique·A Echaniz-LagunaJ Laporte
Feb 15, 2015·Biochimica Et Biophysica Acta·Mark G Waugh
Dec 17, 2014·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Ting ChenQiang Shi
Jan 28, 2014·Journal of Clinical Neurology·Young-Eun ParkDae-Seong Kim
Dec 17, 2017·EMBO Molecular Medicine·Delphine TrochetMarc Bitoun
Aug 19, 2016·Current Opinion in Neurology·Heinz Jungbluth, Nicol C Voermans
Nov 20, 2016·Journal of Clinical Neuromuscular Disease·Sumit Verma, Suman B Balasubramanian

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