Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases.
Neurol India
;
2004 Jun; 52(2): 254-6
Artigo
em Inglês
| IMSEAR
| ID: sea-121318
ABSTRACT
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male child. Although rare, it should be considered in the differential diagnosis of childhood muscle diseases. Histochemical staining is necessary for the diagnosis of this entity.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Coloração e Rotulagem
/
Biópsia
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Pré-Escolar
/
Adolescente
/
Músculo Esquelético
/
Miopatias Congênitas Estruturais
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2004
Tipo de documento:
Artigo
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