Review Article
Mitochondrial Fusion Proteins and Human Diseases
Table 1
Clinical features and their prevalence according to mutation.
| Clinical features | MFN2 | OPA1 | OPA3 | PINK1 |
| Axonal neuropathy | +++ | + | | | Optic atrophy | + | +++ | +++ | | Deafness | + | ++ | | | Limb girdle weakness | + | + | | | Progressive external ophthalmoplegia | ++ | ++ | | | Cataract | | | +++ | | Resting tremor, rigidity, and bradykinesia | | | | +++ | White matter periventricular involvement | + | + | | | 3-Methylglutaconic aciduria | | | +++ | | Cognitive decline | + | + | + | + | Spasticity | ++ | | ++ | | Ataxia | + | + | | |
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+++: typical; ++: common; +: infrequent.
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