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

Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

Acta neurologica Scandinavica - 1 Jul 2016

Braathen G J, Høyer H, Busk Ø L, Tveten K, Skjelbred C F, Russell M B

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next-generation sequencing technology, at present more than 70 CMT-associated genes are known. We investigated whether variants in the DCTN2 could cause CMT. MATERIAL AND METHODS: Fifty-nine Norwegian CMT families from the general population with unknown...

Read the complete abstract on PubMed

Topics

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

Share to Axonemal Dyneins
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dynactin Complex

Share to High-Throughput Nucleotide Sequencing

Share to Membrane Proteins

Share to Myosin Heavy Chains

Share to Myosin Type I

Share to Norway

Source

Open in PubMed Open full text

Identifiers

PMID: 26517670
DOI: 10.1111/ane.12515
PMCID: PMC5057358

Genes

DCTN2
DNAH10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.PMID 26517670Read ↗

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.Semantic proximity Read ↗

A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.Semantic proximity Read ↗

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

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

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Novel variants and rare clinical presentations in MFN2-related Charcot-Marie-Tooth disease: Insights from 10 families.Semantic proximity Read ↗

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

Expanding the spectrum of genes responsible for hereditary motor neuropathiesSemantic proximity Read ↗

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

The genetics of Charcot&ndash;Marie&ndash;Tooth disease: current trends and future implications for diagnosis and managementSemantic proximity Read ↗

Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.Semantic proximity Read ↗

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

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