Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia

Affiliations

¹ Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
² Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
³ Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

Comment

Gerard Saranza et al. Brain. 2020.

. 2020 May 1;143(5):e36.

doi: 10.1093/brain/awaa086.

¹ Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
² Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
³ Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

No abstract available

Comment in

Reply: Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.
Nicolas G, Grangeon L, Wallon D. Nicolas G, et al. Brain. 2020 May 1;143(5):e37. doi: 10.1093/brain/awaa087. Brain. 2020. PMID: 32298417 No abstract available.

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group; Frebourg T, Hannequin D, Campion D, Nicolas G. Grangeon L, et al. Brain. 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095. Brain. 2019. PMID: 31009047