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

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.

Molecular genetics and metabolism - 1 Nov 2012

Kara Bülent, Arıkan Muzaffer, Maraş Hülya, Abacı Neslihan, Cakıris Aris, Ustek Duran

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa) or MILS (maternally inherited Leigh syndrome). The rare T8993C mutation in the MT-ATP6 gene is generally considered to be clinically milder, but there is marked clinical heterogeneity ranging from asymptomatic carriers to fatal infantile Leigh syndrome. Clinical heterogeneity has...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Heterogeneity
Share to Genome, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Leigh Disease

Share to Mitochondria

Share to Mitochondrial Myopathies

Share to Mitochondrial Proton-Translocating ATPases

Share to Retinitis Pigmentosa

Share to Severity of Illness Index

Source

Identifiers

PMID: 22819295
DOI: 10.1016/j.ymgme.2012.06.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.PMID 22819295Read ↗

NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.Semantic proximity Read ↗

Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.Semantic proximity Read ↗

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.Semantic proximity Read ↗

Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome.Semantic proximity Read ↗

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.Semantic proximity Read ↗

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.Semantic proximity Read ↗

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 ↗

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.Semantic proximity Read ↗

Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.Semantic proximity Read ↗

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.Semantic proximity Read ↗

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.Semantic proximity Read ↗

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

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