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, M.C. et al. Central core disease. Indian J Pediatr 71, 1021–1024 (2004). https://doi.org/10.1007/BF02828119
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DOI: https://doi.org/10.1007/BF02828119