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

NARP syndrome in a patient harbouring an insertion in the <i>MT-ATP6</i> gene that results in a truncated protein

1 Jan 2009

Abstract excerpt

BACKGROUND: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6). METHODS: We have performed a mutational screening of the mitochondrial DNA gene encoding for this protein in 62 patients with the disease, that do not carry any of the common mutations described to date. RESULTS: We report clinical...

Read the complete abstract on PubMed

Topics

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

Share to Adipose Tissue and Metabolism
Share to ATP Synthase and ATPases Research
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19124644
DOI: 10.1136/jmg.2008.060616

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

NARP syndrome in a patient harbouring an insertion in the <i>MT-ATP6</i> gene that results in a truncated proteinPMID 19124644Read ↗

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.Semantic proximity Read ↗

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).Semantic proximity Read ↗

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.Semantic proximity Read ↗

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.Semantic proximity Read ↗

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.Semantic proximity Read ↗

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.Semantic proximity Read ↗

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.Semantic proximity Read ↗

[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].Semantic proximity Read ↗

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.Semantic proximity Read ↗

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.Semantic proximity Read ↗

Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.Semantic proximity Read ↗

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.Semantic proximity Read ↗

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