Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

@article{Warner1996ClinicalPO,
  title={Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination},
  author={L. E. Warner and M. Hilz and S. Appel and J. Killian and E. Kolodny and G. Karpati and S. Carpenter and G. Watters and Calvin Wheeler and D. Witt and A. Bodell and E. Nelis and C. Broeckhoven and J. Lupski},
  journal={Neuron},
  year={1996},
  volume={17},
  pages={451-460}
}
Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and congenital hypomyelination (CH). The clinical classification of these neuropathies into discrete categories can sometimes be difficult because there can be both clinical and pathologic variation and overlap between these disorders. We have… Expand
Myelin protein zero gene mutations in Taiwanese patients with Charcot–Marie–Tooth disease type 1
Congenital hypomyelination due to myelin protein zero Q215X mutation
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References

SHOWING 1-10 OF 132 REFERENCES
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot‐Marie‐Tooth disease
Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
Hereditary motor and sensory neuropathies.
  • J. Vance
  • Medicine
  • Journal of medical genetics
  • 1991
Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Mutations in the myelin protein zero gene associated with Charcot‐Marie‐Tooth disease type 1B
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