First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature

Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant.

Source: Brain and Development - May 4, 2021 Category: Neurology Authors: Leman Tekin Orgun, Şeyda Besen, Özlem Sangün, Atıl Bisgin, Özlem Alkan, İlknur Erol Tags: Case Report Source Type: research