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Paper Details

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Clin Genet
2
2021
PLA2G6, cap myopathy, cerebellar atrophy
Author NameAffiliation
Hugh J McMillanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Aren E MarshallChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Taila HartleyChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Christian R MarshallHospital for Sick Children Laboratory Medicine and Pathobiology, University of Toronto
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
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