Ontology highlight
ABSTRACT:
SUBMITTER: Ziaei A
PROVIDER: S-EPMC6659136 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Ziaei Amin A Xu Xiaohong X Dehghani Leila L Bonnard Carine C Zellner Andreas A Jin Ng Alvin Yu AY Tohari Sumanty S Venkatesh Byrappa B Haffner Christof C Reversade Bruno B Shaygannejad Vahid V Pouladi Mahmoud A MA
Neurology. Genetics 20190708 4
<h4>Objective</h4>To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions.<h4>Methods</h4>The patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting.<h4>Results</h4>All 3 patients showed clinical manifestations of ataxia, behavioral and mood changes, premature hair loss, memory loss, and lower back pain. In addition, they prese ...[more]