A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in the gene, KIAA0027, were responsible for MLC and t...
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Published in | Brain & development (Tokyo. 1979) Vol. 25; no. 5; pp. 362 - 366 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Amsterdam
Elsevier B.V
01.08.2003
Elsevier Science |
Subjects | |
Online Access | Get full text |
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