| 1 | HMSN6, MFN2 |
| Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. | |
| Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, Airoldi G, Bassi MT, Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi GP. | |
| Neurology 71(24):1959-66. Epub 2008 Oct 22. 2008 | |
| 2 | CMT2A2, HMSN6, HMSNVI, MFN2 |
| Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. | |
| Zuchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. | |
| Ann Neurol 59(2):276-81. 2006 | |