Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Affiliations

• ¹ Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
• ² Department of Paediatrics, University of Melbourne, Melbourne, Australia.
• ³ Victorian Clinical Genetics Services, Royal Children's Hospital, VIC, Australia.
• ⁴ Kids Research, The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.