Review Article

Mitochondrial Fusion Proteins and Human Diseases

Table 2

Clinical phenotype variability associated with mutations in mitofusin 2.

PhenotypeReference

Charcot-Marie-Tooth type 2A[42]
Hereditary motor and sensory neuropathy, type V[43]
Hereditary motor and sensory neuropathy, type VI[44]
Multiple sclerosis-like disorder[45]
Autosomal dominant optic atrophy plus and mitochondrial DNA multiple deletions syndrome[18, 46]
Mitochondrial DNA depletion syndrome[47]
Parkinson’s disease[48]