title: Central core disease.
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.
authors.affiliation: Departments of Pediatrics, All India Institute of Medical Sciences, New Delhi 110-029, India. sheffalig@yahoo.com
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Amandeep
authors.initials: A
authors.lastname: Salhotra
authors.forename: M C
authors.initials: MC
authors.lastname: Sharma
authors.forename: Chitra
authors.initials: C
authors.lastname: Sarkar
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
mesh_terms: D000203:Activities of Daily Living; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D005081:Exercise Therapy; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D008297:Male; D020512:Myopathy, Central Core / Q000175:diagnosis / Q000473:pathology* / Q000534:rehabilitation*; D011379:Prognosis; D035583:Rare Diseases; D018570:Risk Assessment; D012720:Severity of Illness Index