Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autos...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2019-06, Vol.142 (6), p.1573-1586
Hauptverfasser:	Grangeon, Lou, Wallon, David, Charbonnier, Camille, Quenez, Olivier, Richard, Anne-Claire, Rousseau, Stéphane, Budowski, Clara, Lebouvier, Thibaud, Corbille, Anne-Gaëlle, Vidailhet, Marie, Méneret, Aurélie, Roze, Emmanuel, Anheim, Mathieu, Tranchant, Christine, Favrole, Pascal, Antoine, Jean-Christophe, Defebvre, Luc, Ayrignac, Xavier, Labauge, Pierre, Pariente, Jérémie, Clanet, Michel, Maltête, David, Rovelet-Lecrux, Anne, Boland, Anne, Deleuze, Jean-François, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Brain - metabolism Brain - pathology Brain Diseases - genetics Calcinosis - genetics Female Glycoside Hydrolases - genetics Heterozygote Humans Life Sciences Male Middle Aged Mutation - genetics Nervous System Malformations - genetics Pedigree Phenotype phenotype, computed tomography, mutation, genes, pons, brain, autosomal recessive inheritance, cerebellar atrophy, calcification Young Adult
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