Gulati, Sheffali ; Salhotra, Amandeep ; Sharma, M. C. ; Sarkar, Chitra ; Kalra, Veena (2004) Central core disease Indian Journal of Pediatrics, 71 (11). pp. 1021-1024. ISSN 0019-5456
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Official URL: http://www.springerlink.com/content/r21l5471503733...
Related URL: http://dx.doi.org/10.1007/BF02828119
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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to K.C. Chaudhuri Foundation. |
| Keywords: | Central Core Disease; Congenital Myopathy; Central Cores; Muscle Diseases |
| ID Code: | 56318 |
| Deposited On: | 23 Aug 2011 11:33 |
| Last Modified: | 23 Aug 2011 11:33 |
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