Article
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Molecular genetics & genomic medicine - 1 Mar 2022
Su Tangfeng, Yan Yu, Hu Qingqing, Liu Yan, Xu Sanqing
Abstract excerpt
BACKGROUND: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. METHODS: The clinical characteristics and genetic data of an infant carrying the de novo DYNC1H1 variant identified by trio exome sequencing were analyzed....
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