Article
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.
Pediatric neurology - 1 Jun 2011
Shukla Pallavi, Gupta Neerja, Ghosh Manju, Vasisht Suman, Gulati Sheffali, Balakrishnan Prahlad, Sharma Raju, Gupta Arun K, Kamate Mahesh, Kalra Veena, Kabra Madhulika
Abstract excerpt
Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts. We sought to identify mutations in the MLC1 gene, to evaluate the genotype-phenotype correlation, and to develop a strategy for diagnosing Indian patients with megalencephalic leukoencephalopathy. Forty patients were enrolled. We developed a rapid restriction fragment length polymorphism method to screen a common...
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