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Title:

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

Document type:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
Neilson, Derek E; Zech, Michael; Hufnagel, Robert B; Slone, Jesse; Wang, Xinjian; Homan, Shelli; Gutzwiller, Lisa M; Leslie, Elizabeth J; Leslie, Nancy D; Xiao, Jianfeng; Hedera, Peter; LeDoux, Mark S; Gebelein, Brian; Wilbert, Friederike; Eckenweiler, Matthias; Winkelmann, Juliane; Gilbert, Donald L; Huang, Taosheng
Abstract:
BACKGROUND: In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31. OBJECTIVE: The aim of this study is to identify the genetic cause and molecular basis of an unusual autosomal dominant spastic paraplegia and dystonia. METHODS: Whole exome sequencing following linkage analysis was used to identify the genetic cause in a large family. Cosegregation analysis was also...     »
Journal title abbreviation:
Mov Disord
Year:
2022
Journal volume:
37
Journal issue:
2
Pages contribution:
375-383
Fulltext / DOI:
doi:10.1002/mds.28821
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34636445
Print-ISSN:
0885-3185
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann); Lehrstuhl für Neurogenetik (N.N.)
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