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Dokumenttyp:
journal article 
Autor(en):
Bugiani, M; Moroni, I; Bizzi, A; Nardocci, N; Bettecken, T; Gärtner, J; Uziel, G 
Titel:
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. 
Abstract:
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic disorder featuring diffuse MRI white matter abnormalities and a discrepantly mild clinical picture. It is related to different mutations in MLC1 gene encoding a putative membrane protein of still unknown function. We report on a genetically proven MLC patient who presented with a peculiar clinical course characterized by a prolonged comatose state following a minor head trauma at 12 years of age. The disturbance of con...    »
 
Zeitschriftentitel:
Neuropediatrics 
Jahr:
2003 
Band / Volume:
34 
Heft / Issue:
Seitenangaben Beitrag:
211-4 
Sprache:
eng 
Print-ISSN:
0174-304X 
TUM Einrichtung:
r Humangenetik