Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Authors: Liu, J  Aoki, M  Illa, I  Wu, C  Fardeau, M  Angelini, C  Serrano, C  Urtizberea, JA  Hentati, F  Hamida, MB  Bohlega, S  Culper, EJ  Amato, AA  Bossie, K  Oeltjen, J  Bejaoui, K  McKenna-Yasek, D  Hosler, BA  Schurr, E  Arahata, K  De Jong, PJ  Brown RH, JR 
Citation: Liu J, etal., Nat Genet. 1998 Sep;20(1):31-6.
Pubmed: (View Article at PubMed) PMID:9731526
DOI: Full-text: DOI:10.1038/1682

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 the MM locus, provided five new polymorphic markers within it and narrowed the locus to approximately 2 Mb. Five skeletal muscle expressed sequence tags (ESTs) map in this region. We report that one of these is located in a novel, full-length 6.9-kb muscle cDNA, and we designate the corresponding protein 'dysferlin'. We describe nine mutations in the dysferlin gene in nine families; five are predicted to prevent dysferlin expression. Identical mutations in the dysferlin gene can produce more than one myopathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset).

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RGD ID: 1598789
Created: 2006-12-19
Species: All species
Last Modified: 2006-12-19
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