Limb girdle muscular dystrophy: Description of a phenotype
✍ Scribed by Dr. Joerg-Patrick StüBgen
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 643 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (LGMD) patients [32 autosomal recessive (AR), 15 autosomal dominant (AD), 34 sporadic] were morphologically reevaluated. Sarcoglycan analysis was done in 37 available muscle biopsies of AR and sporadic patients. Chi-square tests wer
After studies which have mapped the -sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the -sarcoglycan gene was found in a consanguineous family
This 6-year prospective follow-up study evaluated the rate of clinical disease progression in 19 of 20 previously reported patients with strictly selected limb girdle muscular dystrophy. There was no significant deterioration in muscle strength (assessed by manual muscle testing). An activities of d