Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

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 subunit is a...

Descripción completa

Detalles Bibliográficos
Autores principales: Gong, Ke, Xie, Li, Wu, Zhong‐shi, Xie, Xia, Zhang, Xing‐xing, Chen, Jin‐Lan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123737/
https://www.ncbi.nlm.nih.gov/pubmed/33661577
http://dx.doi.org/10.1002/mgg3.1651

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123737/
https://www.ncbi.nlm.nih.gov/pubmed/33661577
http://dx.doi.org/10.1002/mgg3.1651

Ejemplares similares