| Abstract | 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. |
| Authors | Marc Bitoun, Jorge A Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lia Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cances, Emmanuelle Uro-Coste, Michèle Mayer, Michel Fardeau, Norma B Romero, Pascale Guicheney
(Affiliation: Institut National de la Sante et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.)
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| Journal | Annals of neurology
(Ann Neurol)
Vol. 62
Issue 6
Pg. 666-70
(Dec 2007)
ISSN: 1531-8249 United States |
| PMID | 17932957
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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| Chemical References |
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| Topics |
- Adolescent
- Age of Onset
- Breast Feeding
- Child
- Child, Preschool
- Dynamin II
(genetics)
- Electrophysiology
- Facial Muscles
(physiopathology)
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Leg
- Muscle Hypotonia
(complications, etiology, physiopathology)
- Muscle Weakness
(etiology, pathology, physiopathology)
- Muscle, Skeletal
(pathology, physiopathology)
- Mutation
- Mutation, Missense
- Myopathies, Structural, Congenital
(complications, epidemiology, genetics, physiopathology)
- Ophthalmoplegia
(etiology)
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