Abstract
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.
Original language | English (US) |
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Pages (from-to) | 1080-1083 |
Number of pages | 4 |
Journal | Nature genetics |
Volume | 44 |
Issue number | 10 |
DOIs | |
State | Published - Oct 1 2012 |
ASJC Scopus subject areas
- Genetics