Emery dreifuss muscular dystrophy: a clinico-pathological study.
Neurol India
;
2006 Jun; 54(2): 197-9
Artigo
em Inglês
| IMSEAR
| ID: sea-120140
ABSTRACT
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Timopoietinas
/
Humanos
/
Masculino
/
Proteínas Nucleares
/
Adolescente
/
Músculo Esquelético
/
Adulto
/
Distrofia Muscular de Emery-Dreifuss
/
Proteínas de Membrana
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2006
Tipo de documento:
Artigo
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