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

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

Neurology - 12 Sept 2000

Karadimas C L, Greenstein P, Sue C M, Joseph J T, Tanji K, Haller R G, Taivassalo T, Davidson M M, Shanske S, Bonilla E, DiMauro S

Abstract excerpt

OBJECTIVE: To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. BACKGROUND: Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main sources of energy for muscle contraction. Relatively little attention has been directed to defects of the mitochondrial...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to Electron Transport Complex IV

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

Share to Immunohistochemistry

Share to Mitochondrial Function and Pathology

Share to Muscles

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Share to Recurrence

Source

Identifiers

PMID: 10980727
DOI: 10.1212/wnl.55.5.644

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

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.PMID 10980727Read ↗

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.Semantic proximity Read ↗

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.Semantic proximity Read ↗

[Myoglobinuria caused by multiple deletions of mitochondrial DNA].Semantic proximity Read ↗

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.Semantic proximity Read ↗

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.Semantic proximity Read ↗

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.Semantic proximity Read ↗

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.Semantic proximity Read ↗

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.Semantic proximity Read ↗

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.Semantic proximity Read ↗

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.Semantic proximity Read ↗

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.Semantic proximity Read ↗

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.Semantic proximity Read ↗

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