Article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Annals of neurology - 1 Feb 2006
Züchner Stephan, De Jonghe Peter, Jordanova Albena, Claeys Kristl G, 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
Abstract excerpt
OBJECTIVE: 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 h...
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