Ontology highlight
ABSTRACT:
SUBMITTER: Shimada S
PROVIDER: S-EPMC4785519 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Human genome variation 20141030
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder manifesting early onset macrocephaly and delayed-onset neurological deterioration. Characteristic radiological findings revealed by brain magnetic resonance imaging are the most important factors for obtaining a clinical diagnosis. In this study, we analyzed the causative gene, MLC1, in seven unrelated Japanese patients. The most common mutation in our study was p.S93L; this mutation ...[more]