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Article
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35
Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described — autosomal dominant forms (ALS1, ALS3), clinically indistinguis...
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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
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2–4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located wit...