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