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

Jing Liu, Masashi Aoki, Isabel Illa, Chenyan Wu, Michel Fardeau, Corrado Angelini, Carmen Serrano, J. Andoni Urtizberea, Faycal Hentati, Mongi Ben Hamida, Saeed Bohlega, Edward J. Culper, Anthony A. Amato, Karen Bossie, Joshua Oeltjen, Khemissa Bejaoui, Diane McKenna-Yasek, Betsy A. Hosler, Erwin Schurr, Kiichi ArahataPieter J. De Jong, Robert H. Brown

研究成果: Article査読

708 被引用数 (Scopus)

抄録

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).

本文言語English
ページ(範囲)31-36
ページ数6
ジャーナルNature Genetics
20
1
DOI
出版ステータスPublished - 1998
外部発表はい

ASJC Scopus subject areas

  • 遺伝学

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