Phenotypic variability in siblings with calpainopathy (LGMD2A).
Acta Myol
; 27: 54-8, 2008 Oct.
Article
in En
| MEDLINE
| ID: mdl-19364062
ABSTRACT
Calpainopathy is an autosomal-recessive limb girdle muscular dystrophy (LGMD2A) characterized by selective atrophy and weakness of proximal limb girdle muscles. The clinical phenotype of the disease is highly variable inter-familial, but little is known about intra-familial variability. This study reports the phenotypic variability in eight sibling pairs with genetically proven LGMD2A. Although siblings with identical mutations were often similarly affected, in some families the age of onset and the clinical course varied considerably.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Muscular Dystrophies, Limb-Girdle
Type of study:
Observational_studies
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Acta Myol
Journal subject:
CARDIOLOGIA
/
FISIOLOGIA
Year:
2008
Document type:
Article
Affiliation country:
United States