Ontology highlight
ABSTRACT:
SUBMITTER: Mezaki N
PROVIDER: S-EPMC6340331 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Mezaki Naomi N Miura Takeshi T Ogaki Kotaro K Eriguchi Makoto M Mizuno Yuri Y Komatsu Kenichi K Yamazaki Hiroki H Suetsugi Natsuki N Kawajiri Sumihiro S Yamasaki Ryo R Ishiguro Takanobu T Konno Takuya T Nozaki Hiroaki H Kasuga Kensaku K Okuma Yasuyuki Y Kira Jun-Ichi JI Hara Hideo H Onodera Osamu O Ikeuchi Takeshi T
Neurology. Genetics 20181207 6
<h4>Objective</h4>To characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 (<i>LMNB1</i>).<h4>Methods</h4>Ninety-three patients with adult-onset leukoencephalopathy of unknown etiology were genetically analyzed for copy numbers of <i>LMNB1</i> and its upstream genes. We examined <i>LMNB1</i> expression by reverse transcription-qPCR using total RNA extracted from per ...[more]