帕金森病
外显子
医学
疾病
基因
生物
遗传学
病理
作者
Emanuel Silva,Tatiana Itzcovich,Matías Niikado,Alejandro Caride,Elmer Fernández,Juan Carlos Vázquez,Leonardo Romorini,Mariela C. Marazita,Gustavo Sevlever,Horacio Martinetto,Ezequiel Surace
标识
DOI:10.1016/j.parkreldis.2022.03.009
摘要
Sequence variants in exon 2 of the Dynactin-1 gene (DCTN1) have been reported as causative of Perry (disease) Syndrome (PeD, MIM 168605), a rare neurodegenerative disorder characterized by parkinsonism, psychiatric symptoms, weight loss and hypoventilation [ [1] Farrer M.J. Hulihan M.M. Kachergus J.M. Dächsel J.C. Stoessl A.J. Grantier L.L. Calne S. Calne D.B. Lechevalier B. Chapon F. Tsuboi Y. Yamada T. Gutmann L. Elibol B. Bhatia K.P. Wider C. Vilarĩo-Güell C. Ross O.A. Brown L.A. Castanedes-Casey M. Dickson D.W. Wszolek Z.K. DCTN1 mutations in Perry syndrome. Nat. Genet. 2009; 41: 163-165https://doi.org/10.1038/ng.293 Crossref PubMed Scopus (245) Google Scholar ]. Here, we report the third family with the p.G67D variant in DCTN1.
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