Zimon M.,University of Antwerp |
Baets J.,University of Antwerp |
Almeida-Souza L.,University of Antwerp |
De Vriendt E.,University of Antwerp |
And 38 more authors.
Nature Genetics | Year: 2012
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia. © 2012 Nature America, Inc. All rights reserved. Source