Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II
K Coen, D Pareyson, M Auer-Grumbach, G Buyse… - Neurology, 2006 - AAN Enterprises
K Coen, D Pareyson, M Auer-Grumbach, G Buyse, N Goemans, KG Claeys, N Verpoorten…
Neurology, 2006•AAN EnterprisesHereditary 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.
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.
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.
American Academy of Neurology