Most congenital myopathies are characterized by the presence of a specific structural alteration in the muscle fibers. Classic examples are central core disease and nemaline myopathy. However, in rare cases, two or more structural changes coexist in the same muscle biopsy, or in two different muscle
✦ LIBER ✦
Myopathy with nemaline structures associated with HIV infection
✍ Scribed by A. Cabello; P. Martínez-Martín; E. Gutiérrez-Rivas; S. Madero
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 734 KB
- Volume
- 237
- Category
- Article
- ISSN
- 0340-5354
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Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu