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Article

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

Neurology - 24 Aug 2004

Seeman P, Mazanec R, Huehne K, Suslíková P, Keller O, Rautenstrauss B

Abstract excerpt

A Czech family with three individuals carrying a novel mutation, 290 A-->T (Glu97Val), in the myelin protein zero gene (P0) is reported. The two eldest carriers developed progressive sensorineural hearing loss and abnormal pupillary reaction at age 18. These preceded the onset of the classic sign...

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Source

Identifiers

PMID: 15326256
DOI: 10.1212/01.wnl.0000134605.61307.de

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15326256-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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