Related Experiment Videos
[Progressive external ophthalmoplegia with extensive mitochondrial DNA deletion]
S Munakata1, H Yamazaki, T Sato
1Departments of Ophthalmology, National Center of Neurology and Psychiatry Kohnodai Hospital, Chiba-ken, Japan.
Nippon Ganka Gakkai Zasshi
|October 1, 1994
Summary
This study details a patient with progressive external ophthalmoplegia, revealing significant muscle mitochondrial DNA deletion and specific eye abnormalities. Findings include ragged-red fibers and reduced cytochrome c oxidase activity, linked to a large mitochondrial DNA deletion.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Progressive external ophthalmoplegia (PEO) is a debilitating condition often linked to mitochondrial dysfunction.
- Ocular manifestations are common in PEO, but detailed characterization can be limited.