Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner, Stephan

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. [electronic resource] - Annals of neurology Feb 2006 - 276-81 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

0364-5134

10.1002/ana.20797 doi


Adolescent
Adult
Age of Onset
Charcot-Marie-Tooth Disease--complications
Child
DNA Mutational Analysis--methods
Family Health
GTP Phosphohydrolases
Genetic Predisposition to Disease--genetics
Humans
Membrane Proteins--genetics
Middle Aged
Mitochondrial Proteins--genetics
Models, Biological
Mutation
Neural Conduction--physiology
Optic Atrophy--etiology
Pedigree
Visual Acuity--physiology