Central core disease.
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2004-11-02
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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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Gulati S, Salhotra A, Sharma MC, Sarkar C, Kalra V. Central core disease. Indian Journal of Pediatrics. 2004 Nov; 71(11): 1021-4