Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. [electronic resource]
Producer: 20071101Description: 1263-6 p. digitalISSN:- 1468-330X
- Aged
- Axons -- pathology
- Biopsy
- Charcot-Marie-Tooth Disease -- diagnosis
- Chromosome Aberrations
- Chromosomes, Human, Pair 1
- DNA Mutational Analysis
- Diseases in Twins -- diagnosis
- Exons -- genetics
- Female
- Genes, Dominant
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Humans
- Male
- Microscopy, Electron
- Middle Aged
- Mutation, Missense -- genetics
- Myelin P0 Protein -- genetics
- Nerve Fibers, Myelinated -- pathology
- Neurologic Examination
- Phenotype
- Sural Nerve -- pathology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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