HIGHLIGHTS
- who: Hager Jaouadi and colleagues from the Aix Marseille University, INSERM, Marseille Medical Genetics, Marseille, France have published the article: Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants, in the Journal: (JOURNAL) of 10/Dec/2021
- what: The authors report a clinical and genetic investigation using trio-based whole-exome sequencing of a pediatric case with early-onset dilated-LVNC. mutations were identified in the Striated Muscle Enriched Protein Kinase (SPEG) gene a key regulator of cardiac calcium homeostasis. The authors report an early-onset dilated-LVNC case . . .
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