mitochondrial DNA depletion syndrome 11
Findings
No curated finding names mitochondrial DNA depletion syndrome 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0014039), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
36 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.
- Cerebellar atrophyHPOHP:0001272
- 5 of 5 reported patients
- Very rare (1% to 4% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 4 of 4 reported patients
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 6 of 6 reported patients
- Progressive external ophthalmoplegiaHPOHP:0000590
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Ragged-red muscle fibersHPOHP:0003200
- 6 of 6 reported patients
- Frequent (30% to 79% 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.
- MGME1HGNC:16205
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: mitochondrial DNA depletion syndrome 11
- Also called
- MGME1 mitochondrial DNA depletion syndromemitochondrial DNA depletion syndrome caused by mutation in MGME1mitochondrial DNA depletion syndrome type 11mitochondrial DNA maintenance syndrome due to MGME1 deficiencymtDNA maintenance syndrome due to MGME1 deficiencyPEO-myopathy-emaciation syndrome