autosomal dominant mitochondrial myopathy with exercise intolerance
MONDO:0014532Mondo
Findings
No curated finding names autosomal dominant mitochondrial myopathy with exercise intolerance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- Increased intramyocellular lipid dropletsHPOHP:0012240
- Frequent (30% to 79% of cases)
- Increased mitochondrial numberHPOHP:0040014
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
- Neck flexor weaknessHPOHP:0003722
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Ragged-red muscle fibersHPOHP:0003200
- Frequent (30% to 79% of cases)
Show the remaining 4
- Restrictive ventilatory defectHPOHP:0002091
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Weakness of facial musculatureHPOHP:0030319
- Frequent (30% to 79% of cases)
- Proximal upper limb muscle weaknessHPOHP:0008997
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHCHD10HGNC:15559
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022