The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Author:

Riley Lisa G.12ORCID,Rudinger‐Thirion Joëlle3,Frugier Magali3,Wilson Meredith45,Luig Melissa6,Alahakoon Thushari Indika7,Nixon Cheng Yee89,Kirk Edwin P.910,Roscioli Tony10,Lunke Sebastian111213,Stark Zornitza111314ORCID,Wierenga Klaas J.1516,Palle Sirish15,Walsh Maie17,Higgs Emily17,Arbuckle Susan18,Thirukeswaran Shalini1419,Compton Alison G.1419,Thorburn David R.111419,Christodoulou John211131419ORCID

Affiliation:

1. Rare Diseases Functional Genomics, Kids ResearchThe Children's Hospital at Westmead and The Children's Medical Research Institute Sydney Australia

2. Discipline of Child & Adolescent HealthSydney Medical School Sydney Australia

3. Université de StrasbourgArchitecture et Réactivité de l'ARN, CNRS, IBMC Strasbourg France

4. Department of Clinical GeneticsThe Children's Hospital at Westmead Sydney Australia

5. Discipline of Genomic MedicineUniversity of Sydney Sydney Australia

6. Department of NeonatologyWestmead Hospital Sydney Australia

7. Westmead Institute for Maternal & Fetal MedicineWestmead Hospital & University of Sydney Sydney Australia

8. Neuroscience Research Australia (NeuRA)University of New South Wales Sydney Australia

9. Genetics LaboratoryNSW Health Pathology Sydney Australia

10. Centre for Clinical GeneticsSydney Children's Hospital Sydney Australia

11. Victorian Clinical Genetics ServicesThe Royal Children's Hospital Melbourne Australia

12. Department of PathologyUniversity of Melbourne Melbourne Australia

13. Australian Genomics Health Alliance Melbourne Australia

14. Department of PaediatricsUniversity of Melbourne Melbourne Australia

15. Department of PediatricsUniversity of Oklahoma Health Sciences Center (OUHSC) Oklahoma City OK

16. Department of Clinical GenomicsMayo Clinic Jacksonville Florida

17. Genetic Medicine & Familial Cancer CentreRoyal Melbourne Hospital Melbourne Australia

18. Department of PathologyThe Children's Hospital at Westmead Sydney Australia

19. Murdoch Children's Research InstituteThe Royal Children's Hospital Melbourne Australia

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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