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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...
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Article
Refined map** and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that shows familial, autosomal dominant inheritance in 10%–15% of cases. Previous genetic analysis of one large family l...
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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...
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Article
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis