## Abstract Although the genetic and biochemical bases of many of the muscular dystrophies have been elucidated, the pathophysiological mechanisms leading to muscle cell death and degeneration remain elusive. Among the most well studied of the dystrophies are those due to defects in proteins that m
Hypotheses and recent findings concerning aetiology and pathogenesis of the muscular dystrophies
β Scribed by F. Jerusalem
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 548 KB
- Volume
- 213
- Category
- Article
- ISSN
- 0340-5354
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β¦ Synopsis
The survey reports recent findings and current hypotheses on the aetiology and pathogenesis of the muscular dystrophies. Briefly presented are (1) biochemical anomalies of structure and metabolism, (2) membrane defects, (3) the neural hypothesis, (4) the vascular hypothesis, and (5) the connective tissue hypothesis. At present, research interest is focused primarily on membrane structure and biochemistry, on neural muscle trophism, and on the genetic aspects of abnormalities in molecular biology. Whether the progressive muscular dystrophies are primary disorders of voluntary muscle or whether the primary alteration is located outside of the muscle still remains unknown.
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Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). Dysferlin is involved in muscle membrane-repair and is thought to interact with other dysferlin molecules and annexins A1 and A2 at the sarcolemma. We performed genotype/