학술논문
Novel mutations in the HSN2gene causing hereditary sensory and autonomic neuropathy type II
Document Type
Article
Author
Source
Neurology (Ovid); March 2006, Vol. 66 Issue: 5 p748-751, 4p
Subject
Language
ISSN
00283878; 1526632X
Abstract
Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2gene 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 HSN2mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.