Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Journal of the peripheral nervous system : JPNS - 1 Mar 2017

Sun Bo, Chen Zhaohui, Ling Li, Yang Fei, Huang Xusheng

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a common hereditary motor and sensory neuropathy. Epidemiological data for Chinese CMT patients are few. This study aimed to analyze the electrophysiological and genetic characteristics of Chinese Han patients. A total of 106 unrelated patients with the clinical diagnosis of CMT were included. Clinical examination, nerve conduction studies (NCS), next-generation sequencing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to Connexins
Share to Electromyography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Gap Junction beta-1 Protein

Share to Longitudinal Studies

Share to Myelin Proteins

Share to Neural Conduction

Source

Identifiers

PMID: 27862672
DOI: 10.1111/jns.12195

Genes

LITAF
PMP22
BSCL2
GJB1
MFN2
MPZ
NEFL

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.PMID 27862672Read ↗

Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in TaiwanSemantic proximity Read ↗

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.Semantic proximity Read ↗

[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].Semantic proximity Read ↗

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.Semantic proximity Read ↗

[Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree].Semantic proximity Read ↗

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.Semantic proximity Read ↗

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth DiseaseSemantic proximity Read ↗

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.Semantic proximity Read ↗

Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.Semantic proximity Read ↗

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.