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Article

Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS - 1 Dec 2018

He Jin, Guo Lingling, Xu Guorong, Xu Liuqing, Lin Shan, Chen Wanjin, Wang Ning

Abstract excerpt

Demyelinating Charcot-Marie-Tooth disease (CMT) is the most common subtype of CMT. It is caused mainly by 17p11.2 heterozygous duplication, but also by mutations in more than 20 genes which affect development and function of Schwann cells. To investigate the profile of genes mutated and clinical features in demyelinating CMT of Chinese descent, we collected a cohort of 44 demyelinating CMT patients and screened...

Topics

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Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
Demyelinating Diseases
Gene Duplication
Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Multiplex Polymerase Chain Reaction

Mutagenesis, Insertional

Myelin P0 Protein

Source

Identifiers

PMID: 29896895
DOI: 10.1111/jns.12277

Genes

GDAP1
MPZ
PMP22
SBF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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