Chung, K W

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. [electronic resource] - Brain : a journal of neurology Aug 2006 - 2103-18 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2156

10.1093/brain/awl174 doi


Adolescent
Adult
Age of Onset
Amino Acid Sequence
Brain--pathology
Charcot-Marie-Tooth Disease--genetics
Child
Disability Evaluation
Female
GTP Phosphohydrolases
Humans
Magnetic Resonance Imaging
Male
Membrane Proteins--genetics
Microscopy, Electron
Middle Aged
Mitochondrial Proteins--genetics
Molecular Sequence Data
Mutation
Neural Conduction
Optic Atrophies, Hereditary--genetics
Pedigree
Phenotype
Severity of Illness Index
Sural Nerve--ultrastructure