Article
Mitochondrial genome study in blood of maternally inherited ALS cases.
Human genomics - 28 Jul 2023
Brockmann Sarah J, Buck Eva, Casoli Tiziana, Meirelles João L, Ruf Wolfgang P, Fabbietti Paolo, Holzmann Karlheinz, Weishaupt Jochen H, Ludolph Albert C, Conti Fiorenzo, Danzer Karin M
Abstract excerpt
BACKGROUND: ALS is a heterogeneous disease in which different factors such as mitochondrial phenotypes act in combination with a genetic predisposition. This study addresses the question of whether homoplasmic (total mitochondrial genome of a sample is affected) and/or heteroplasmic mutations (wildtype and mutant mitochondrial DNA molecules coexist) might play a role in familial ALS. Blood was drawn from familial...
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