title: 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.
authors.affiliation: Department of Neuroscience, Neurology, University Hospital, Uppsala University, Uppsala, Sweden.
authors.forename: Atle
authors.initials: A
authors.lastname: Melberg
authors.forename: Christine
authors.initials: C
authors.lastname: Kretz
authors.forename: Hannu
authors.initials: H
authors.lastname: Kalimo
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: Anne
authors.initials: A
authors.lastname: Toussaint
authors.forename: Johann
authors.initials: J
authors.lastname: Böhm
authors.forename: Erik
authors.initials: E
authors.lastname: Stålberg
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D018450:Disease Progression; D034285:Dynamin II / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013548:Sweden
chemical_list: D034285:Dynamin II