Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance. [electronic resource]
Producer: 20071026Description: 443-9 p. digitalISSN:- 0001-6322
- Adult
- Asparagine -- genetics
- Charcot-Marie-Tooth Disease -- diagnosis
- Child
- Consanguinity
- DNA Mutational Analysis -- methods
- Demyelinating Diseases -- genetics
- Female
- Genes, Recessive
- Humans
- Microscopy, Electron, Transmission
- Mutation
- Myelin P0 Protein -- genetics
- Myelin Sheath -- ultrastructure
- Peripheral Nerves -- pathology
- Phenylalanine -- genetics
- Serine -- genetics
- Tyrosine -- genetics
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Publication Type: Case Reports; Journal Article
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