A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Derek E NeilsonMichael ZechRobert B HufnagelJesse SloneXinjian WangShelli HomanLisa M GutzwillerElizabeth J LeslieNancy D LeslieJianfeng XiaoPeter HederaMark S LeDouxBrian GebeleinFriederike WilbertMatthias EckenweilerJuliane WinkelmannDonald L GilbertTaosheng HuangPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
A unique form of familial spastic paraplegia and dystonia is associated with a heterozygous ATP5MC3 variant that also reduces mitochondrial complex V activity.