| Literature DB >> 31271879 |
P V S Souza1, Thiago Bortholin2, Carlos Alberto Castro Teixeira2, Daniel Delgado Seneor2, Vitor Dias Gomes Barrios Marin2, Renan Braido Dias2, Igor Braga Farias2, B M L Badia2, Luiz Henrique Libardi Silva2, W B V R Pinto2, Acary Souza Bulle Oliveira2, Salvatore DiMauro3.
Abstract
Leigh syndrome represents a complex inherited neurometabolic and neurodegenerative disorder associated with different clinical, genetic and neuroimaging findings in the context of bilateral symmetrical lesions involving the brainstem and basal ganglia. Heterogeneous neurological manifestations such as spasticity, cerebellar ataxia, dystonia, choreoathetosis and parkinsonism are associated with multisystemic and ophthalmological abnormalities due to >75 different monogenic causes. Here, we describe the clinical and genetic features of a Brazilian cohort of patients with Leigh Syndrome in which muscle biopsy analysis showed mitochondrial DNA defects and determine the utility of whole exome sequencing for a final genetic diagnostic in this cohort.Entities:
Keywords: Leigh syndrome; Mitochondrial DNA maintenance; Mitochondrial disorders; Whole exome sequencing
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Year: 2019 PMID： 31271879 DOI： 10.1016/j.mito.2019.06.008
Source DB: PubMed Journal: Mitochondrion ISSN： 1567-7249 Impact factor: 4.160