Article
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Nature genetics - 1 Sept 1998
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea J A, Hentati F, Hamida M B, Bohlega S, Culper E J, Amato A A, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler B A, Schurr E, Arahata K, de Jong P J, Brown R H
Abstract excerpt
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome (PAC) contig spanning the MM candidate region. This clarified the order of genetic markers across th...
Topics
- Adult
- Amino Acid Sequence
- Blotting, Northern
- Cloning, Molecular
- Dysferlin
- Female
- Gene Expression
- Genetic Markers
- Humans
- Male
- Membrane Proteins