Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

doi:10.1002/(sici)1097-4598(199808)21:8<1078::aid-mus15>3.0.co;2-q

Back to search

Article

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Muscle & nerve - 1 Aug 1998

Pénisson-Besnier I, Richard I, Dubas F, Beckmann J S, Fardeau M

Abstract excerpt

Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. On...

Topics

Adult
Atrophy
Calpain
Family Health
Female
Humans
Male
Muscle Weakness
Muscle, Skeletal
Muscular Dystrophies
Nuclear Family
Phenotype
Reunion

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.