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Article

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Neurogenetics - 1 Feb 2011

Choi Byung-Ok, Kim Nam Keun, Park Sun Wha, Hyun Young Se, Jeon Hyeon Jeong, Hwang Jung Hee, Chung Ki Wha

Abstract excerpt

Rare copy number variations by the nonrecurrent rearrangements involving PMP22 have been recently suggested to be associated with CMT1A peripheral neuropathy. As a mechanism of the nonrecurrent rearrangement, replication-based fork stalling template switching (FoSTeS) by microhomology-mediated break-induced replication (MMBIR) has been proposed. We found three Korean CMT1A families with putative nonrecurrent...

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Source

Identifiers

PMID: 21193943
DOI: 10.1007/s10048-010-0272-3

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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