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

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.

Journal of neurology - 1 Jan 2024

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

Abstract excerpt

BACKGROUND: To identify genetic causes in 40 whole exome sequencing (WES)-negative Charcot-Marie-Tooth (CMT) families and provide a summary of the clinical and genetic features of the diagnosed patients. METHODS: The clinical information and sequencing data of 40 WES-negative families out of 131 CMT families were collected, and phenotype-driven reanalysis was conducted using the Exomiser software. RESULTS: The...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Mitochondrial Proteins

Share to Mutation

Share to Phenotype

Share to Phosphate Transport Proteins

Source

Identifiers

PMID: 37776383
DOI: 10.1007/s00415-023-11991-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.PMID 37776383Read ↗

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.Semantic proximity Read ↗

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

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.Semantic proximity Read ↗

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseaseSemantic proximity Read ↗

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

Charcot–Marie–Tooth disease and related disorders: an evolving landscapeSemantic proximity Read ↗

Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.Semantic proximity Read ↗

Novel MORC2 variants in Charcot–Marie–Tooth disease type 2Z: genetic and functional insightsSemantic proximity Read ↗

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.Semantic proximity Read ↗

Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.Semantic proximity Read ↗

Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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