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Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype
Authors:Amanda Krause  Claire Mitchell  Fahmida Essop  Susan Tager  James Temlett  Giovanni Stevanin  Christopher Ross  Dobrila Rudnicki  Russell Margolis
Affiliation:1. Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa;2. Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa;3. Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa;4. Donald Gordon Medical Centre, Johannesburg, South Africa;5. Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia;6. Sorbonne Universités, UPMC Univ Paris, Institut du Cerveau et de la Moelle épinière, Paris, France;7. Ecole Pratique des Hautes Etudes, Paris, France;8. Johns Hopkins University School of Medicine, Departments of Psychiatry, Neurology, Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine, Baltimore, Maryland;9. Johns Hopkins University School of Medicine, Departments of Psychiatry and Program in Cellular and Molecular Medicine, Baltimore, Maryland;10. Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore, Maryland
Abstract:
Keywords:Huntington  Huntington disease‐like  African  junctophilin  trinucleotide repeat expansion
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