Abstract
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.
Original language | English |
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Pages (from-to) | 748-751 |
Number of pages | 4 |
Journal | Neurology |
Volume | 66 |
Issue number | 5 |
DOIs | |
Publication status | Published - Mar 2006 |
ASJC Scopus subject areas
- Neuroscience(all)