SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

被引：31

作者：

Verhoeven, K

Coen, K

De Vriendt, E

Jacobs, A

Van Gerwen, V

Smouts, I

Pou-Serradell, A

Martin, JJ

Timmerman, V

De Jonghe, P

机构：

[1] Univ Instelling Antwerp, Dept Mol Genet, Peripheral Neuropathy Grp, B-2610 Antwerp, Belgium

[2] Univ Instelling Antwerp VIB, B-2610 Antwerp, Belgium

[3] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

[4] Born Bunge Fdn, Antwerp, Belgium

[5] Univ Autonoma Barcelona, Hosp del Mar, Dept Neurol, Barcelona, Spain

来源：

NEUROLOGY | 2004年 / 62卷 / 06期

关键词：

D O I：

10.1212/01.WNL.0000115388.10828.5C

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：1001 / 1002

页数：2

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