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

• MIM:616209
• ORDO:457050

Ontology

Human Disease   ( DOID:0081357 )