## Abstract ## Objective Defects in glycosylation of Ξ±βdystroglycan are associated with several forms of muscular dystrophy, often characterized by congenital onset and severe structural brain involvement, collectively known as dystroglycanopathies. Six causative genes have been identified in thes
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy
β Scribed by Kevin P. Campbell
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 231 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0364-5134
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We report childhood-onset autosomal-dominant limb-girdle muscular dystrophy (LGMD) in a Chinese family with complete atrioventricular conduction block in the adult members. Six patients, including 5 men and 1 woman with an age of onset from 3 to 7 years, were affected. The grandfather had exercise i
The autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are a heterogeneous group of disorders of progressive weakness of the pelvic and shoulder girdle musculature. The clinical course is characterized by great variability, ranging from severe forms with onset in the first decade and ra