Concepedia

A Novel Variant of <scp><i>ATP5MC3</i></scp> Associated with Both Dystonia and Spastic Paraplegia

Derek Neilson, Michael Zech, Robert B. Hufnagel, Jesse Slone, Xinjian Wang, Shelli M. Homan, Lisa M. Gutzwiller, Elizabeth J. Leslie, Nancy D. Leslie, Jianfeng Xiao,

Movement Disorders · 2021 · 20 citations · 38 references

DOIFull text

Open access

Abstract

A unique form of familial spastic paraplegia and dystonia is associated with a heterozygous ATP5MC3 variant that also reduces mitochondrial complex V activity.

References

38

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