Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Neurol India
;
2006 Sep; 54(3): 293-5
Artigo
em Inglês
| IMSEAR
| ID: sea-120544
ABSTRACT
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is characterized by a severe Duchene muscular dystrophy like phenotype. Most such cases represent alpha or gamma sarcoglycanopathies. Mental subnormality is very uncommon and other central nervous system deficits have not been documented in patients with SCARMD. We report a brother and sister with the SCARMD phenotype, who additionally had static mental subnormality and choreiform movements. Work-up for sarcolgycan genes, dystrophin gene and known causes of mental retardation and chorea was normal.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Glicoproteínas de Membrana
/
Criança
/
Saúde da Família
/
Coreia
/
Sarcoglicanas
/
Transtornos Mentais
/
Distrofias Musculares
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2006
Tipo de documento:
Artigo
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