Here I present: “Chronic Progressive External Ophthalmoplegia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 渐进性外置眼瘫。(CPEO)
INTRODUCTION.
Mitochondrial diseases generally affect tissues with high metabolic demand, such as the central and peripheral nervous systems, heart, adrenal glands, renal tubules, skeletal muscles, and the eye. Chronic Progressive external ophthalmoplegia (CPEO) is the most common manifestation of mitochondrial diseases.
Optic atrophy type-1 (OPA1) is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including chronic progressive external ophthalmoplegia (CPEO).
There is evidence evidence optic atrophy type-1 (OPA1) is caused by heterozygous mutation in the OPA1 gene on cytogenetic location 3q29 and genomic coordinates 3:193,593,208-193,697,811. The screenshot of the OPA1 gene 104,604 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides OPA1 in the 3q29 cytogenetic location are listed BENEATH. 
| Coordinate | Symbol | Genomic Name |
| 3:191,329,394 | CCDC50 | Coiled-coil domain-containing protein 50 |
| 3:191,461,163 | PYDC2 | Pyrin domain-containing protein 2 |
| 3:192,139,390 | FGF12 | Fibroblast growth factor-12 |
| 3:192,600,001 | DEL3q29 | Chromosome 3q29 microdeletion syndrome |
| 3:192,600,001 | DUP3q29 | Chromosome 3q29 microduplication syndrome |
| 3:192,796,815 | MB21D2 | MAB21 domain-containing protein 2 |
| 3:193,240,606 | PLAAT1 | Phospholipase A and acetyltransferase 1 |
| 3:193,274,789 | ATP13A5 | ATPase 13A5 |
| 3:193,398,967 | ATP13A4 | ATPase 13A4 |
| 3:193,593,208 | OPA1 | OPA1 mitochondrial dynamin-like GTPase |
