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

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

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...

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Bibliographic Details
Main Authors: Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Medical Genomics
Subjects:
KARS
Mitochondrial diseases
Encephalohepatopathy
Leopard-like retinopathy
ARSs
Case report
Online Access:https://doi.org/10.1186/s12920-020-00863-1

Internet

https://doi.org/10.1186/s12920-020-00863-1

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