期刊
NEUROLOGY
卷 66, 期 5, 页码 748-751出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000201191.57519.47
关键词
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Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype-phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.
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