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Open Access Articles- Top Results for Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts
Classification and external resources
OMIM 604004
DiseasesDB 33813
NCI Megalencephalic leukoencephalopathy with subcortical cysts
Patient UK Megalencephalic leukoencephalopathy with subcortical cysts
GeneReviews

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.

It is associated with MLC1.[1][2]

References

  1. ^ Ilja Boor PK, de Groot K, Mejaski-Bosnjak V et al. (June 2006). "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1". Hum. Mutat. 27 (6): 505–12. PMID 16652334. doi:10.1002/humu.20332. 
  2. ^ "Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference". Retrieved 2009-03-11. 

External links

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