Article
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Brain & development - 1 Aug 2022
Khalaf-Nazzal Reham, Dweikat Imad, Maree Mosab, Alawneh Maysa, Barahmeh Myassar, Doulani Rasha T, Qrareya Mohammad, Qadi Mohammad, Dudin Anwar
Abstract excerpt
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and frontoparietal regions. Later in the disease course, significant...
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