Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

@article{Nicholson2008SevereEA,
  title={Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.},
  author={Garth A. Nicholson and Corinne Magdelaine and Danqing Zhu and Simon Grew and Monique M. Ryan and F. Sturtz and Jean-michel Vallat and Robert A. Ouvrier},
  journal={Neurology},
  year={2008},
  volume={70 19},
  pages={1678-81}
}
OBJECTIVE Severe early-onset axonal neuropathy (SEOAN) is a heterogeneous phenotype first delineated by Ouvrier et al., characterized by progressive axonal degeneration with gait problems often progressing to wheelchair requirement and later respiratory involvement. Most cases are sporadic single cases. Some have heterozygous mitofusin 2 (MFN2) mutations, many of which are de novo dominant mutations. The aim of this study was to investigate the mode of inheritance in three individuals with… CONTINUE READING

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