Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
Züchner, Stephan × De Jonghe, Peter Jordanova, Albena Claeys, Kristl Guergueltcheva, Velina Cherninkova, Sylvia Hamilton, Steven R Van Stavern, Greg Krajewski, Karen M Stajich, Jeffery Tournev, Ivajlo Verhoeven, Kristien Langerhorst, Christine T de Visser, Marianne Baas, Frank Bird, Thomas Timmerman, Vincent Shy, Michael Vance, Jeffery M #
American Neurological Association
Annals of Neurology vol:59 issue:2 pages:276-281
Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI). Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive.