期刊
NEUROLOGY
卷 62, 期 6, 页码 1001-1002出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000115388.10828.5C
关键词
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Hereditary sensory neuropathy type I (HSN I) is an autosomal dominant ulceromutilating disorder of the peripheral nervous system characterized by progressive sensory loss. HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). A novel missense mutation in exon 13 of the SPTLC1 gene ( c. 1160G-->G p. G387A) in twin sisters with a severe HSN I phenotype is reported.
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