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Article

Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.

Journal of the peripheral nervous system : JPNS - 1 Jun 2024

Liu Lei, Zeng Sen, Li Xiaobo, Xie Yongzhi, Xu Ke, Yang Honglan, Huang Shunxiang, Zhao Huadong, Zhang Ruxu

Abstract excerpt

BACKGROUND AND AIMS: This study aimed to report nine Charcot-Marie-Tooth disease (CMT) families with six novel IGHMBP2 mutations in our CMT2 cohort and to summarize the genetic and clinical features of all AR-CMT2S patients reported worldwide. METHODS: General information, clinical and neurophysiological data of 275 axonal CMT families were collected. Genetic screening was performed by inherited peripheral...

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PMID: 38772550
DOI: 10.1111/jns.12633

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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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