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[Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].

Rinsho shinkeigaku = Clinical neurology - 1 Oct 1995

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

Abstract excerpt

We studied phenotypic heterogeneity in 18 Japanese patients with Charcot-Marie-Tooth disease type 1A (CMT1A) with PMP-22 gene duplication, together with heterogeneity of duplication size. In order to detect the duplication of PMP-22 gene region, the PMP-22 cDNA and a polymorphic marker VAW409R3 were used as probes for Southern blot analysis. As the clinical phenotypes, we assessed the degree of foot deformity,...

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PMID: 8821490

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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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