Article
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
Muscle & nerve - 1 Nov 1998
Kawai H, Akaike M, Kunishige M, Inui T, Adachi K, Kimura C, Kawajiri M, Nishida Y, Endo I, Kashiwagi S, Nishino H, Fujiwara T, Okuno S, Roudaut C, Richard I, Beckmann J S, Miyoshi K, Matsumoto T
Abstract excerpt
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7+/-3.1 years (mean+/-SD), and loss of ambulance occurred at 38.5+/-2.1 years. Muscle atrophy was predominant...
Topics
- Age of Onset
- Biopsy
- Calpain
- Child
- DNA Mutational Analysis
- Exons
- Family Health
- Female
- Haplotypes
- Humans
- Isoenzymes
- Japan
- Male
- Microscopy, Electron