Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs...

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Bibliographic Details
Published in:Annals of neurology 2007-12, Vol.62 (6), p.666-670
Main Authors: Bitoun, Marc, Bevilacqua, Jorge A., Prudhon, Bernard, Maugenre, Svetlana, Taratuto, Ana Lia, Monges, Soledad, Lubieniecki, Fabiana, Cances, Claude, Uro-Coste, Emmanuelle, Mayer, Michèle, Fardeau, Michel, Romero, Norma B., Guicheney, Pascale
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Biological and medical sciences
Breast Feeding
Child
Child, Preschool
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diseases of striated muscles. Neuromuscular diseases
Dynamin II - genetics
Electrophysiology
Facial Muscles - physiopathology
Heterozygote
Human health and pathology
Humans
Infant
Infant, Newborn
Leg
Life Sciences
Medical sciences
Muscle Hypotonia - complications
Muscle Hypotonia - etiology
Muscle Hypotonia - physiopathology
Muscle Weakness - etiology
Muscle Weakness - pathology
Muscle Weakness - physiopathology
Muscle, Skeletal - pathology
Muscle, Skeletal - physiopathology
Mutation
Mutation, Missense
Myopathies, Structural, Congenital - complications
Myopathies, Structural, Congenital - epidemiology
Myopathies, Structural, Congenital - genetics
Myopathies, Structural, Congenital - physiopathology
Neurology
Ophthalmoplegia - etiology
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Description
Summary:We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs, and most of them also presented with facial weakness, open mouth, arched palate, ptosis, and ophthalmoparesis. Electrophysiology showed only myopathic changes, and muscle biopsies showed central nuclei and type 1 fiber hypotrophy and predominance. Our results expand the phenotypic spectrum of dynamin 2–related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype. Ann Neurol 2007
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.21235