Central core disease.
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Prognosis
/
Biopsy, Needle
/
Severity of Illness Index
/
Female
/
Humans
/
Male
/
Activities of Daily Living
/
Immunohistochemistry
/
Child
/
Child, Preschool
Type of study:
Etiology study
/
Prognostic study
/
Risk factors
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Pediatr
Year:
2004
Type:
Article
Similar
MEDLINE
...
LILACS
LIS