Title: Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II
Authors: Coen, K ×
Pareyson, D
Auer-Grumbach, M
Buyse, Gunnar
Goemans, Nathalie
Claeys, Kristl
Verpoorten, N
Laurà, M
Scaioli, V
Salmhofer, W
Pieber, T R
Nelis, E
De Jonghe, P
Timmerman, V #
Issue Date: Mar-2006
Publisher: Advanstar Communications
Series Title: Neurology vol:66 issue:5 pages:748-51
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.
ISSN: 0028-3878
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Molecular Biology (Celgen) (-)
× corresponding author
# (joint) last author

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