vacuolar Neuromyopathy
MONDO:0011155Mondo
Findings
No curated finding names vacuolar Neuromyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- PLIN4HGNC:29393
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: vacuolar Neuromyopathy
- Also called
- muscular dystrophy with rimmed vacuoles