Bi-allelic mutations ofLONP1encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Author:

Nimmo Graeme A M1,Venkatesh Sundararajan2,Pandey Ashutosh K2,Marshall Christian R34,Hazrati Lili-Naz5,Blaser Susan6,Ahmed Sohnee1,Cameron Jessie3,Singh Kamalendra78,Ray Peter N349,Suzuki Carolyn K2,Yoon Grace110

Affiliation:

1. Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

2. Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ, USA

3. Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

4. The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada

5. Division of Neuropathology, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada

6. Division of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

7. Molecular Microbiology and Immunology, Christopher Bond Life Sciences Center, University of Missouri School of Medicine, Columbia, Missouri, USA

8. Department of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institutet, Stockholm, SE Sweden

9. Department of Molecular Genetics, The University of Toronto, Toronto, Ontario, Canada

10. Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada

Funder

University of Toronto

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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