Article
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Neurogenetics - 1 Aug 2012
Mancini Cecilia, Vaula Giovanna, Scalzitti Laura, Cavalieri Simona, Bertini Enrico, Aiello Chiara, Lucchini Cinzia, Gatti Richard A, Brussino Alessandro, Brusco Alfredo
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive disease characterized by early onset macrocephaly; developmental delay; motor disability in the form of progressive spasticity and ataxia; seizures; cognitive decline; and characteristic magnetic resonance imagin...
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