Search Ontology:
Human Disease

isolated mitochondrial myopathy

Term ID
DOID:0081357
Synonyms
  • Autosomal dominant mitochondrial myopathy with exercise intolerance
Definition
A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. https://pubmed.ncbi.nlm.nih.gov/35700042/
References
Ontology
Human Disease   ( DOID:0081357 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models