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Title
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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Nature genetics. - New York, N.Y.
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Publication
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New York, N.Y.
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2012
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ISSN
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1061-4036
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DOI
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10.1038/NG.2406
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Volume/pages
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44
:10
(2012)
, p. 1080-1083
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ISI
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000309550200005
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Full text (Publisher's DOI)
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