Your browser doesn't support javascript.
loading
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Neurol India ; 2006 Sep; 54(3): 293-5
Article de En | IMSEAR | ID: sea-120544
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.
Sujet(s)
Texte intégral: 1 Indice: IMSEAR Sujet Principal: Femelle / Humains / Mâle / Glycoprotéines membranaires / Enfant / Santé de la famille / Chorée / Sarcoglycanes / Troubles mentaux / Dystrophies musculaires Type d'étude: Diagnostic_studies langue: En Texte intégral: Neurol India Année: 2006 Type: Article
Texte intégral: 1 Indice: IMSEAR Sujet Principal: Femelle / Humains / Mâle / Glycoprotéines membranaires / Enfant / Santé de la famille / Chorée / Sarcoglycanes / Troubles mentaux / Dystrophies musculaires Type d'étude: Diagnostic_studies langue: En Texte intégral: Neurol India Année: 2006 Type: Article