1061-40362011998SepNat GenetDysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.313631-6Miyoshi 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).LiuJJDay Neuromuscular Research Laboratory, Charlestown, Massachusetts 02129, USA.AokiMMIllaIIWuCCFardeauMMAngeliniCCSerranoCCUrtizbereaJ AJAHentatiFFHamidaM BMBBohlegaSSCulperE JEJAmatoA AAABossieKKOeltjenJJBejaouiKKMcKenna-YasekDDHoslerB ABASchurrEEArahataKKde JongP JPJBrownR HRHJrengGENBANKAF075575552TI_TelethonItaly5PO1NS31248NSNINDS NIH HHSUnited States5PO1AG12992AGNIA NIH HHSUnited States5RO1N834913APHS HHSUnited StatesJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.Research Support, U.S. Gov't, P.H.S.