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Article

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

Archives of neurology - 1 Jan 2008

Harrower Timothy, Stewart Joanna D, Hudson Gavin, Houlden Henry, Warner Graham, O'Donovan Dominic G, Findlay Leslie J, Taylor Robert W, De Silva Rajith, Chinnery Patrick F

Abstract excerpt

BACKGROUND: Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge. OBJECTIVE: To determine the cause of axonal CMT type 2 in 3 siblings. DESIGN: Case report. SETTING:...

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Identifiers

PMID: 18195151
DOI: 10.1001/archneurol.2007.4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18195151-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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