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Article

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain : a journal of neurology - 1 Aug 2015

Safka Brozkova Dana, Deconinck Tine, Griffin Laurie Beth, Ferbert Andreas, Haberlova Jana, Mazanec Radim, Lassuthova Petra, Roth Christian, Pilunthanakul Thanita, Rautenstrauss Bernd, Janecke Andreas R, Zavadakova Petra, Chrast Roman, Rivolta Carlo, Zuchner Stephan, Antonellis Anthony, Beg Asim A, De Jonghe Peter, Senderek Jan, Seeman Pavel, Baets Jonathan

Abstract excerpt

Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) was identified in a...

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Identifiers

PMID: 26072516
DOI: 10.1093/brain/awv158
PMCID: PMC4840952

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.PMID 26072516Read ↗

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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.Semantic proximity Read ↗

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