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Central core disease
Sheffali Gulati1, Amandeep Salhotra, M C Sharma
1Departments of Pediatrics, All India Institute of Medical Sciences, New Delhi 110-029, India. sheffalig@yahoo.com
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.
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