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Indian J Pediatr ; 2004 Nov; 71(11): 1021-4
Article in English | IMSEAR | ID: sea-83211

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.


Subject(s)
Activities of Daily Living , Biopsy, Needle , Child , Child, Preschool , Exercise Therapy , Female , Humans , Immunohistochemistry , India , Male , Myopathy, Central Core/diagnosis , Prognosis , Rare Diseases , Risk Assessment , Severity of Illness Index
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