Central core disease

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

Full text not available from this repository.

Official URL: http://www.springerlink.com/content/r21l5471503733...

Related URL: http://dx.doi.org/10.1007/BF02828119


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

Repository Staff Only: item control page