Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

Clin Genet. 2021 May;99(5):746-748. doi: 10.1111/cge.13935. Epub 2021 Feb 11.

¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
² Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
³ Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
⁴ Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
⁵ Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
⁶ Newborn Screening Ontario, Ottawa, Ontario, Canada.

No abstract available

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