1.
Neurology
; 66(5): 748-51, 2006 Mar 14.
Article
in English
| MEDLINE
| ID: mdl-16534117
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.
Subject(s)
Chromosomes, Human, Pair 12 , Hereditary Sensory and Autonomic Neuropathies/genetics , Mutation , Nerve Tissue Proteins/genetics , Adult , Base Sequence , Chromosome Mapping , Exons , Female , Genetic Carrier Screening , Genotype , Humans , Intracellular Signaling Peptides and Proteins , Introns , Male , Middle Aged , Minor Histocompatibility Antigens , Pedigree , Phenotype , Protein Serine-Threonine Kinases , Sequence Deletion , WNK Lysine-Deficient Protein Kinase 1
2.
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.
J Med Genet
; 41(3): 193-7, 2004 Mar.
Article
in English
| MEDLINE
| ID: mdl-14985381
