Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

• 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.

Nyckelord

Amphiphysin

Centronuclear myopathy

Charcot-Marie-Tooth neuropathy

Congenital myopathy

DNM2

Dynamin 2

GTPase

Mutation

Myotubular myopathy

Myotubularin

Neonatal

Pleckstrin homology

RYR1

MEDICINE

MEDICIN

Neurology

Neurologi

Publikations- och innehållstyp

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