Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference19 articles.
1. Mitochondria: impaired mitochondrial translation in human disease;Boczonadi V;Int J Biochem Cell Biol,2014
2. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination;Fine AS;J Neurodev Disord,2019
3. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation;Scheper GC;Nat Genet,2007
4. The phenotypic variability and natural history of NARS2 associated disease;Sofou K;Eur J Paediatr Neurol,2021
5. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2);Vanlander AV;Hum Mutat,2015
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1. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;BMC Pediatrics;2024-02-03
2. Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY;Frontiers in Pediatrics;2023-12-06
3. Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report;Cureus;2023-08-23
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