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Article

A novel AARS mutation in a family with dominant myeloneuropathy.

Neurology - 19 May 2015

Motley William W, Griffin Laurie B, Mademan Inès, Baets Jonathan, De Vriendt Els, De Jonghe Peter, Antonellis Anthony, Jordanova Albena, Scherer Steven S

Abstract excerpt

OBJECTIVE: To determine the genetic cause of neurodegeneration in a family with myeloneuropathy. METHODS: We studied 5 siblings in a family with a mild, dominantly inherited neuropathy by clinical examination and electrophysiology. One patient had a sural nerve biopsy. After ruling out common genetic causes of axonal Charcot-Marie-Tooth disease, we sequenced 3 tRNA synthetase genes associated with neuropathy....

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Identifiers

PMID: 25904691
DOI: 10.1212/WNL.0000000000001583
PMCID: PMC4442103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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