A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia,Movement Disorders

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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia
Movement Disorders ( IF 7.4 ) Pub Date : 2021-10-11 , DOI: 10.1002/mds.28821
Derek E Neilson ₁ , Michael Zech _{2,

3} , Robert B Hufnagel ₁ , Jesse Slone ₁ , Xinjian Wang ₁ , Shelli Homan ₁ , Lisa M Gutzwiller ₄ , Elizabeth J Leslie ₅ , Nancy D Leslie ₁ , Jianfeng Xiao ₆ , Peter Hedera ₇ , Mark S LeDoux ₈ , Brian Gebelein ₄ , Friederike Wilbert ₉ , Matthias Eckenweiler ₉ , Juliane Winkelmann _{2,

3,

10,

11} , Donald L Gilbert ₁₂ , Taosheng Huang ₁

Affiliation

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Departments of Neurology and Anatomy and Neurobiology, The University of Tennessee Health Science Center, Memphis, Tennessee, USA.
Department of Neurology, University of Louisville, Louisville, Kentucky, USA.
Department of Psychology, University of Memphis and Veracity Neuroscience LLC, Memphis, Tennessee, USA.
Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.
Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.
Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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.

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