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Article

[Heterogeneity in breakpoint location of duplication in Japanese Charcot-Marie-Tooth disease type 1A].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 1997

Yamamoto M, Yasuda T, Yamamoto K, Mitsuma T, Sobue G

Abstract excerpt

The crossover breakpoints for CMT1A are located in the CMT1A-REP repeat flanking a 1.5 Mb region of chromosome 17p11.2-12. We analysed the relationship between the breakpoint locations and clinical phenotypes in 21 Japanese patients with CMT1A duplication. The CMT1A-REP region was divided in 5 regions, A, B, C, D and E, based on restriction site differences between the proximal and distal CMT1A-REP repeats...

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Identifiers

PMID: 9146075

Genes

PMP22

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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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