8C73.0
category
Autosomal recessive cardiomyopathy or ophthalmoplegia
Definition
Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes.
Exclusions
Also indexed as
ARCO - [Autosomal recessive cardiomyopathy and ophthalmoplegia]Autosomal recessive cardiomyopathy or ophthalmoplegia