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  1. No Access

    Article

    A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

    Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. Here we report the identification of two independent deletion mutations linke...

    Shinji Hadano, Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa… in Nature Genetics (2001)

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    Article

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

    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...

    **g Liu, Masashi Aoki, Isabel Illa, Chenyan Wu, Michel Fardeau… in Nature Genetics (1998)