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 mu...

Full description

Saved in:
Bibliographic Details
Published in:Neuromuscular disorders : NMD 2010-01, Vol.20 (1), p.53-56
Main Authors: Melberg, Atle, Kretz, Christine, Kalimo, Hannu, Wallgren-Pettersson, Carina, Toussaint, Anne, Böhm, Johann, Stålberg, Erik, Laporte, Jocelyn
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Amino Acid Substitution
Amphiphysin
Centronuclear myopathy
Charcot-Marie-Tooth neuropathy
Congenital myopathy
Disease Progression
DNM2
Dynamin 2
Dynamin II - genetics
Family
Female
Genetics
GTPase
Humans
Infant
Life Sciences
MEDICIN
MEDICINE
Middle Aged
Muscle, Skeletal - pathology
Muscle, Skeletal - physiopathology
Mutation
Myopathies, Structural, Congenital - genetics
Myopathies, Structural, Congenital - pathology
Myopathies, Structural, Congenital - physiopathology
Myotubular myopathy
Myotubularin
Neonatal
Neurologi
Neurology
Phenotype
Pleckstrin homology
RYR1
Sequence Analysis, DNA
Sweden
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0960-8966
1873-2364
1873-2364
DOI:10.1016/j.nmd.2009.10.006