Documentos relacionados

1. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
2. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
3. Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
4. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
5. Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
6. Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
7. Expanding the phenotype of DNAJC30-associated Leigh syndrome.
8. Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
9. The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
10. Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.