Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

doi:10.1111/ene.16572

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

Topics Community

Back to search

Article

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

European journal of neurology - 1 Jan 2025

Cakar Arman, Candayan Ayse, Bagırova Gulandam, Uyguner Zehra Oya, Ceylaner Serdar, Durmus Hacer, Battaloglu Esra, Parman Yesim

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye. METHODS: Demographic and clinical findings were recorded. Patients were initially screened for PMP22 duplication. Targeted sequencing or whole-exome sequencing was performed in duplication-negative patients....

Topics

Charcot-Marie-Tooth Disease
Humans
Male
Female
Phenotype
Adult
Adolescent
Middle Aged
Young Adult
Child
Gap Junction beta-1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Proteins

Myelin Proteins

Mutation

Cohort Studies

Exome Sequencing

Nerve Tissue Proteins

GTP Phosphohydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 39776111
DOI: 10.1111/ene.16572
PMCID: PMC11707620

Genes

GJB1
PMP22
GDAP1
HINT1
MFN2
MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.PMID 39776111Read ↗

Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.Semantic proximity Read ↗

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in JapanSemantic proximity Read ↗

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.Semantic proximity Read ↗

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.Semantic proximity Read ↗

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.Semantic proximity Read ↗

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous MarriagesSemantic proximity Read ↗

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

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

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.Semantic proximity Read ↗

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.Semantic proximity Read ↗

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