(1) Department of Pediatrics, All India Institute of Medical Sciences, 110029 New Delhi, India;(2) Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
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.