Article
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Proceedings of the National Academy of Sciences of the United States of America - 2 Mar 1999
Pelin K, Hilpelä P, Donner K, Sewry C, Akkari P A, Wilton S D, Wattanasirichaigoon D, Bang M L, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea J A, Muntoni F, Dubowitz V, Beggs A H, Laing N G, Labeit S, de la Chapelle A, Wallgren-Pettersson C
Abstract excerpt
The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the alpha-tropomyosin gene TPM3. The typical form of nemaline myopathy is...
Topics
- Australia
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Codon, Terminator
- Female
- Frameshift Mutation
- Genetic Markers
- Genetic Variation