Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts | |
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Classification and external resources | |
OMIM | 604004 |
DiseasesDB | 33813 |
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] Van der Knaap disease is named after Dutch neurologist Marjo van der Knaap.[3]
References
- ↑ 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.
- ↑ "Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference". Retrieved 2009-03-11.
- ↑ David Holmes (November 2012). "Marjo van der Knaap: searching for patterns in the chaos". The Lancet Neurology. Retrieved 5 September 2015.
External links
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