Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Ann Neurol
; 62(6): 666-70, 2007 Dec.
Article
em En
| MEDLINE
| ID: mdl-17932957
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Miopatias Congênitas Estruturais
/
Dinamina II
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
França