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Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.
Features include always present findings: Decreased activity of mitochondrial complex III; and common findings: Dystonia, Gait ataxia, Nystagmus, and Dysarthria and others. 47 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 27 | Slowness of movement (bradykinesia), Mild intellectual disability, Dystonia |
TTC19 function has not been fully characterized.
Mitochondrial complex III deficiency nuclear type 2 is associated with mutations in the TTC19 gene on chromosome 17.
Genetic testing for TTC19 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for mitochondrial complex III deficiency nuclear type 2 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 8 common features.
No clinical trials have been registered for mitochondrial complex III deficiency nuclear type 2.
14 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 2. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (21%), and Case Report / Case Series (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 50% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Muscles
7 |
Olivopontocerebellar atrophy, Limb fasciculations, Muscle weakness |
Eyes | 2 | Nystagmus, Diplopia |
Arms and legs | 2 | Limb fasciculations, Limb ataxia |
Bones and joints | 2 | Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis) |
Ears | 1 | Hearing loss (hearing impairment) |
Lungs and breathing | 1 | Central apnea |
Lab test results | 1 | Decreased activity of mitochondrial complex III |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Research summaries
3 |
21% |
Patient case studies | 3 | 21% |
Testing and diagnosis research | 1 | 7% |
Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Mol Genet Metab*. [Basic Science / Preclinical]
Dou K (2026). [PMID: 41805567](https://pubmed.ncbi.nlm.nih.gov/41805567/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Li S (2026). [PMID: 41909124](https://pubmed.ncbi.nlm.nih.gov/41909124/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Lan SC (2026). [PMID: 42091683](https://pubmed.ncbi.nlm.nih.gov/42091683/). *Neurol Sci*. [Case Report / Case Series]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
Al Khudari R (2025). [PMID: 40336053](https://pubmed.ncbi.nlm.nih.gov/40336053/). *Orphanet J Rare Dis*. [Diagnostic / Biomarker]
Choi RH (2025). [PMID: 40254778](https://pubmed.ncbi.nlm.nih.gov/40254778/). *Obesity (Silver Spring)*. [Basic Science / Preclinical]
Chen YW (2025). [PMID: 40703651](https://pubmed.ncbi.nlm.nih.gov/40703651/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
Farsana MK (2025). [PMID: 40652486](https://pubmed.ncbi.nlm.nih.gov/40652486/). *Neurol India*. [Case Report / Case Series]
AI-curated news mentioning mitochondrial complex III deficiency nuclear type 2
Updated May 7, 2026
A recent case report analyzes the clinical onset age-related phenotypic features of mitochondrial complex III deficiency nuclear type 2. This study contributes to understanding the variability in disease presentation, which may inform future research and clinical approaches.