Megalencephalic leukoencephalopathy with subcortical cysts

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Megalencephalic leukoencephalopathy with subcortical cysts
Synonyms Vacuolating megalencephalic leukoencephalopathy with subcortical cysts

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] Van der Knaap disease is named after Dutch neurologist Marjo van der Knaap.[3]

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. doi:10.1002/humu.20332. PMID 16652334. 
  2. ^ "Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference". Retrieved 2009-03-11. 
  3. ^ David Holmes (November 2012). "Marjo van der Knaap: searching for patterns in the chaos". The Lancet Neurology. Retrieved 5 September 2015. 

External links

Classification
D
External resources
  • GeneReview/NIH/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts


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