Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. [electronic resource]
Producer: 20060425Description: 398-403 p. digitalISSN:- 0364-5134
- DNA Mutational Analysis -- methods
- Electrophoresis, Polyacrylamide Gel -- methods
- Humans
- MARVEL Domain-Containing Proteins
- Magnetic Resonance Imaging -- methods
- Male
- Membrane Proteins -- genetics
- Microscopy, Electron, Transmission -- methods
- Mutation
- Neural Conduction -- physiology
- Nucleic Acid Hybridization -- methods
- Pelizaeus-Merzbacher Disease -- complications
- Peripheral Nervous System Diseases -- complications
- Proteolipids
- Reverse Transcriptase Polymerase Chain Reaction -- methods
- Sural Nerve -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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