Central core disease

Indian J Pediatr. 2004 Nov;71(11):1021-4. doi: 10.1007/BF02828119.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Activities of Daily Living
  • Biopsy, Needle
  • Child
  • Child, Preschool
  • Exercise Therapy
  • Female
  • Humans
  • Immunohistochemistry
  • India
  • Male
  • Myopathy, Central Core / diagnosis
  • Myopathy, Central Core / pathology*
  • Myopathy, Central Core / rehabilitation*
  • Prognosis
  • Rare Diseases
  • Risk Assessment
  • Severity of Illness Index