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Article

Charcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy.

Journal of clinical neuromuscular disease - 1 Jun 2010

Simpson Benjamin S, Rajabally Yusuf A

Abstract excerpt

We describe a previously asymptomatic patient who developed acute onset sensory symptoms which gradually resolved spontaneously. Neurologic examination revealed pes cavus, and motor nerve conduction studies were consistent with Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of a novel frameshift mutation within the transmembrane domain of the myelin protein zero gene (Leu144fs)....

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Identifiers

PMID: 20516806
DOI: 10.1097/CND.0b013e3181a84bb8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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