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Identification of novel mutations inMLC1responsible for megalencephalic leukoencephalopathy with subcortical cysts

✍ Scribed by P. Leegwater; P. Boor; B. Yuan; J. van der Steen; A. Visser; A. Könst; C. Oudejans; R. Schutgens; J. Pronk; M. van der Knaap

Publisher: Springer
Year: 2002
Tongue: English
Weight: 176 KB
Volume: 110
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-002-0682-x

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Erratum to: Identification of novel muta

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Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1

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## Communicated by Christopher Mathew Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is caused by m

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Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.A

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