Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset - Archive ouverte HAL Access content directly
Journal Articles Neuromuscul Disord Year : 2010

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

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.

Domains

Genetics

Dates and versions

hal-04009058 , version 1 (28-02-2023)

Identifiers

Cite

Atle Melberg, Christine Kretz, Hannu Kalimo, Carina Wallgren-Pettersson, Anne Toussaint, et al.. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. Neuromuscul Disord, 2010, 20 (1), pp.53-56. ⟨10.1016/j.nmd.2009.10.006⟩. ⟨hal-04009058⟩
12 View
0 Download

Altmetric

Share

Gmail Facebook X LinkedIn More