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

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Neurology - 11 Sept 2012

Pitceathly Robert D S, Murphy Sinéad M, Cottenie Ellen, Chalasani Annapurna, Sweeney Mary G, Woodward Cathy, Mudanohwo Ese E, Hargreaves Iain, Heales Simon, Land John, Holton Janice L, Houlden Henry, Blake Julian, Champion Michael, Flinter Frances, Robb Stephanie A, Page Rupert, Rose Michael, Palace Jacqueline, Crowe Carol, Longman Cheryl, Lunn Michael P, Rahman Shamima, Reilly Mary M, Hanna Michael G

Abstract excerpt

OBJECTIVE: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with uncomplicated inherited neuropathy, despite the e...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to DNA, Mitochondrial

Share to Hereditary Sensory and Motor Neuropathy

Share to Mitochondrial Proton-Translocating ATPases

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 22933740
DOI: 10.1212/WNL.0b013e3182698d8d
PMCID: PMC3525307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22933740-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.PMID 22933740Read ↗

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.Semantic proximity Read ↗

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.Semantic proximity Read ↗

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsSemantic proximity Read ↗

Biallelic variants in<i>COX18</i>cause a mitochondrial disorder primarily manifesting as peripheral neuropathySemantic proximity Read ↗

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.Semantic proximity Read ↗

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.Semantic proximity Read ↗

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.Semantic proximity Read ↗

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.Semantic proximity Read ↗

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.Semantic proximity Read ↗

A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.Semantic proximity Read ↗

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.Semantic proximity Read ↗

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