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 and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.

Neurology - 14 May 2013

Vissing Christoffer Rasmus, Duno Morten, Olesen Jess Have, Rafiq Jabin, Risom Lotte, Christensen Ernst, Wibrand Flemming, Vissing John

Abstract excerpt

Mitochondrial myopathies commonly present with exercise intolerance typified by breathlessness and fatigue on exercise. In contrast, exercise-induced rhabdomyolysis and myoglobinuria occur rarely. We present a 43-year-old man with a lifelong history of exercise intolerance associated with myalgia and recurrent episodes of exercise-induced myoglobinuria. From early childhood, he had weekly episodes of...

Read the complete abstract on PubMed

Topics

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

Share to Carnitine
Share to DNA, Mitochondrial

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

Share to Electron Transport Complex IV

Share to MADD gene

Share to Mutation

Share to Recurrence

Source

Identifiers

PMID: 23616164
DOI: 10.1212/WNL.0b013e3182929fb2

Genes

MADD

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 and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.PMID 23616164Read ↗

Late Diagnosis of Adult-Onset Carnitine Palmitoyltransferase II Deficiency in a 63-Year-Old Man Presenting with Recurrent Rhabdomyolysis: A Case ReportSemantic proximity Read ↗

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

[Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].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 ↗

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.Semantic proximity Read ↗

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.Semantic proximity Read ↗

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

Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.Semantic proximity Read ↗

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

Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.Semantic proximity Read ↗

Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation.Semantic proximity Read ↗

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.Semantic proximity Read ↗

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