Phenotypic clustering in MPZ mutations.

@article{Shy2004PhenotypicCI,
  title={Phenotypic clustering in MPZ mutations.},
  author={M. Shy and {\'A}. J{\'a}ni and K. Krajewski and M. Grandis and R. Lewis and J. Li and R. Shy and J. Balsamo and J. Lilien and J. Garbern and J. Kamholz},
  journal={Brain : a journal of neurology},
  year={2004},
  volume={127 Pt 2},
  pages={
          371-84
        }
}
Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains. Homotypic interactions between extracellular domains of MPZ adhere adjacent myelin wraps to each other. MPZ is also necessary for myelin compaction since mice which lack MPZ develop severe dysmyelinating neuropathies in which compaction is dramatically disrupted. MPZ mutations in humans cause the inherited demyelinating neuropathy CMT1B. Some mutations… Expand
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References

SHOWING 1-10 OF 107 REFERENCES
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
  • 214
  • Highly Influential
  • PDF
Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
  • 13
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation
  • 74
  • PDF
Impaired Intracellular Trafficking Is a Common Disease Mechanism ofPMP22Point Mutations in Peripheral Neuropathies
  • 125
  • Highly Influential
Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
  • 356
  • Highly Influential
Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene
  • 19
  • PDF
...
1
2
3
4
5
...