Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
✍ Scribed by Sinéad M. Murphy; Matilde Laurá; Julian Blake; James Polke; Fion Bremner; Mary M. Reilly
- Book ID
- 116794751
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 310 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0960-8966
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
The myelin protein zero gene (MPZ) maps to chromosome lq22-23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charco
## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c