Article
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Nature genetics - 1 Sept 1998
Vicart P, Caron A, Guicheney P, Li Z, Prévost M C, Faure A, Chateau D, Chapon F, Tomé F, Dupret J M, Paulin D, Fardeau M
Abstract excerpt
Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped...
Topics
- Animals
- Base Sequence
- Cell Line
- Cloning, Molecular
- Cricetinae
- Crystallins
- Desmin
- Female
- Genetic Markers
- Heat-Shock Proteins
- Humans
- Lod Score
- Male
- Microscopy, Immunoelectron
- Molecular Chaperones
- Molecular Sequence Data
- Muscle, Skeletal
- Muscular Diseases