GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1 . However, there have been reports of SMA‐like disorders that are independent of SMN1 , including those due to pathogenic variants in the glycyl‐tRNA synthetase gene ( GARS1 ) . We report three unrelated patients with de novo variants in GARS1 that are associated with infantile‐onset SMA (iSMA). Patients were ascertained...