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Article

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.

Journal of neuropathology and experimental neurology - 1 Jul 2003

Shames Igor, Fraser Andrew, Colby Joshua, Orfali Wayel, Snipes G Jackson

Abstract excerpt

Mutations in the genes for peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) cause human hereditary neuropathies with varying clinical and pathological phenotypes. In this study, we examine the effects of representative disease-causing mutations on the subcellular distribution of...

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Source

Identifiers

PMID: 12901701
DOI: 10.1093/jnen/62.7.751

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12901701-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.PMID 12901701Read ↗

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