X-linked myopathy with excessive autophagy
Findings
No curated finding names X-linked myopathy with excessive autophagy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.
Definition from the Mondo Disease Ontology (MONDO:0010684), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Proximal lower limb amyotrophyHPOHP:0008956
- 45 of 45 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 45 of 45 reported patients
- Skeletal muscle autophagosome accumulationHPOHP:0025717
- 14 of 14 reported patients
- Abnormality of the cardiovascular systemHPOHP:0001626
- 0 of 45 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 45 reported patients
- Muscle fiber necrosisHPOHP:0003713
- 0 of 14 reported patients
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.
- VMA21HGNC:22082
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: X-linked myopathy with excessive autophagy
- Also called
- myopathy, X-linked, with excessive autophagy, X-linked recessivevacuolar myopathyXMEA