Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
Abstract Background Leigh syndrome, the most common mitochondrial syndrome in pediatrics, has diverse clinical manifestations and is genetically heterogeneous. Pathogenic mutations in more than 75 genes of two genomes (mitochondrial and nuclear) have been identified. PDHA1 encoding the E1 alpha subu...
| Autors principals: | , , , , , |
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| Format: | Article |
| Idioma: | English |
| Publicat: |
Wiley
2021-04-01
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| Col·lecció: | Molecular Genetics & Genomic Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/mgg3.1651 |