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Article

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Journal of neurology - 1 Aug 2015

Bansagi Boglarka, Antoniadi Thalia, Burton-Jones Sarah, Murphy Sinead M, McHugh John, Alexander Michael, Wells Richard, Davies Joanna, Hilton-Jones David, Lochmüller Hanns, Chinnery Patrick, Horvath Rita

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary axonal damage. The underlying pathology involves axonal degeneration which is supposed to be related to axonal protein dysfunction caused by various gene mutations. The overlapping...

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Identifiers

PMID: 26032230
DOI: 10.1007/s00415-015-7778-4
PMCID: PMC4539360

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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.

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