Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Hugh J McMillan, Aren E Marshall, Sunita Venkateswaran, Taila Hartley, Jodi Warman-Chardon, Arun K Ramani, Christian R Marshall, Jean Michaud, Kym M Boycott, David A Dyment, Kristin D Kernohan
Author Information
- Hugh J McMillan: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. ORCID
- Aren E Marshall: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
- Sunita Venkateswaran: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
- Taila Hartley: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
- Jodi Warman-Chardon: Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
- Arun K Ramani: Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
- Christian R Marshall: Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
- Jean Michaud: Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
- Kym M Boycott: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. ORCID
- David A Dyment: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. ORCID
- Kristin D Kernohan: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
No abstract text available.
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- /CIHR
Adolescent
Alleles
Biopsy
Cerebellum
Group VI Phospholipases A2
Humans
Male
Mutation
Myopathies, Structural, Congenital
Siblings
Whole Genome Sequencing
Group VI Phospholipases A2
PLA2G6 protein, human
