1.
Journal of the Korean Neurological Association
;
: 251-254, 2007.
Artigo
em Coreano
| WPRIM
| ID: wpr-17571
RESUMO
A 38-year-old Korean man was diagnosed with hereditary sensory and autonomic neuropathy (HSAN) type 2 because of his chronic sensory neuropathy and progressive acro-mutilation. Genetic analysis revealed that he was a compound heterozygous for two novel mutations in the HSN2 gene including a nonsense mutation (Gln73X) and a 1-bp insertion mutation (Asp379fsX1). To our knowledge, this is the first report of a genetically confirmed case of HSAN type 2 in the Asian population and supports the genetic homogeneity of this rare disease.