Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

• Main Authors: Francesca Peluso (Author), Viviana Palazzo (Author), Giuseppe Indolfi (Author), Francesco Mari (Author), Roberta Pasqualetti (Author), Elena Procopio (Author), Claudia Nesti (Author), Renzo Guerrini (Author), Filippo Santorelli (Author), Sabrina Giglio (Author)
• Format: Book
• Published: BMC, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot-Marie-Tooth type CMTRIB, hearing loss type DFNB89, and mitochondrial encephalo...