mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
MONDO:0020714Mondo
Findings
No curated finding names mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
13 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.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 1 of 1 reported patient
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- Highly elevated creatine kinaseHPOHP:0030234
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Limb-girdle muscle weaknessHPOHP:0003325
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- MyoglobinuriaHPOHP:0002913
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
Show the remaining 1
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
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.
- FDX2HGNC:30546
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of