Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

Affiliations

• ¹ TY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia.
• ² Children's Hospital at Westmead Clinical School, Sydney Medical School, Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
• ³ Randwick Genomics Laboratory NSW Health Pathology, Prince of Wales Hospital Sydney New South Wales Australia.
• ⁴ Centre for Clinical Genetics Sydney Children's Hospital Randwick New South Wales Australia.
• ⁵ Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School University of New South Wales Sydney New South Wales Australia.
• ⁶ Genetics of Learning Disability (GoLD) service Hunter Genetics Newcastle New South Wales Australia.
• ⁷ School of Women's and Children's Health University of New South Wales Randwick New South Wales Australia.
• ⁸ Brain and Mitochondrial Research Group Murdoch Children's Research Institute Melbourne Victoria Australia.
• ⁹ Molecular Medicine Laboratory and Neurology Department Concord Repatriation General Hospital, Concord Clinical School, The University of Sydney Sydney New South Wales Australia.
• ¹⁰ Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Darlinghurst New South Wales Australia.