Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

@article{Arnedo2013ExpandingTS,
  title={Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations},
  author={Tanit Arnedo and Chiara Aiello and Elena Jeworutzki and Maria Lisa Dentici and Graziella Uziel and Alessandro Simonati and Michael Pusch and Enrico Bertini and Ra{\'u}l Est{\'e}vez},
  journal={neurogenetics},
  year={2013},
  volume={15},
  pages={41-48}
}
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a heterogeneous neurodegenerative leukodystrophy caused by recessive mutations in MLC1 or GLIALCAM (types MLC1 and MLC2A) of by dominant mutations in GLIALCAM (MLC2B). GlialCAM functions as an auxiliary subunit of both MLC1 and ClC-2 chloride channel, increasing and modifying the function of the latter. Dominant mutations in GLIALCAM cause transient features of MLC but lacks clinical deterioration. Most recessive and dominant… CONTINUE READING

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