Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.

@article{Houlden2001MutationsIT,
  title={Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.},
  author={Henry Houlden and Rosalind H. H. King and Nicholas Wood and Professor P. K. Thomas and Mary M Reilly},
  journal={Brain : a journal of neurology},
  year={2001},
  volume={124 Pt 5},
  pages={907-15}
}
Focally folded myelin has been recognized as a distinctive feature in some individuals with severe inherited demyelinating neuropathy, with an onset in childhood. Such cases have been shown to be genetically heterogeneous. Alterations in the myotubularin-related protein 2 (MTMR2) gene on chromosome 11q22 have recently been shown to give rise to this phenotype. Mutations have been identified in the 3' region of the MTMR2 gene in four unrelated families, in two of whom the disorder had been… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 27 extracted citations

Inherited Neuropathies.

Seminars in neurology • 2015

Genetic deletion of Cadm4 results in myelin abnormalities resembling Charcot-Marie-Tooth neuropathy.

The Journal of neuroscience : the official journal of the Society for Neuroscience • 2013

References

Publications referenced by this paper.
Showing 1-10 of 31 references

Similar Papers

Loading similar papers…