Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. [electronic resource]
Producer: 20060929Description: 2103-18 p. digitalISSN:- 1460-2156
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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