1.
Indian J Pediatr
;
2004 Nov; 71(11): 1021-4
Artigo
em Inglês
| IMSEAR
| ID: sea-83211
RESUMO
Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.