Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype

Şahin et al. (2023) used Genomize-SEQ to analyze whole-exome sequencing data in a Turkish patient with unexplained muscle stiffness and cramps, identifying a homozygous ATP2A1 mutation and diagnosing Brody Disease, an ultra-rare myopathy with only 47 patients reported worldwide.

Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

Bayraktar et al. (2023) used Genomize-SEQ to process whole-exome sequencing data in a Turkish ALS patient, uncovering the first de novo SOD1-His47Arg mutation reported in Türkiye and only the sixth globally, highlighting the underrecognized role of de novo mutations in apparently sporadic ALS.