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Article

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.

Journal of the neurological sciences - 15 Nov 2001

Senderek J, Ramaekers V T, Zerres K, Rudnik-Schöneborn S, Schröder J M, Bergmann C

Abstract excerpt

Mutations in the gene for the peripheral myelin protein zero (P0, MPZ) cause type 1B of Charcot-Marie-Tooth sensorimotor neuropathy (CMT1B). Here we report a German family with a novel heterozygous P0 nonsense mutation (G206X) that supposedly removes four-fifths of the amino acid residues constit...

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Source

Identifiers

PMID: 11701152
DOI: 10.1016/s0022-510x(01)00591-3

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11701152-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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