Neurol Genet 2021 Jun 22;7(3):e584. Epub 2021 Apr 22.
Division of Neurology (S.A., S.K., C.S.), Department of Clinical Neuroscience, Karolinska Institutet; Department of Cell and Molecular Biology (F.D.G., E.-B.B., A.A.L., S.J., U.L.), Karolinska Institutet; and Department of Neurobiology, Care Sciences and Society (D.O., H.K., U.L.), Karolinska Institutet, Stockholm, Sweden.
Objective: To conduct a clinical study of a family with neurologic symptoms and findings carrying a novel mutation and to analyze the molecular consequences of the mutation.
Methods: We analyzed a family with complex neurologic symptoms by MRI and neurologic examinations. Exome sequencing of the locus was conducted, and whole-genome sequencing was performed to identify , , and mutations. Read More