Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

Succinyl‐CoA synthetase or succinate‐CoA ligase deficiency can result from biallelic mutations in SUCLG1 gene that encodes for the alpha subunit of the succinyl‐CoA synthetase. Mutations in this gene were initially associated with fatal infantile lactic acidosis. We describe an individual with a nov...

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Detalles Bibliográficos
Autores principales: Demirbas, Didem, Harris, David J., Arn, Pamela H., Huang, Xiaoping, Waisbren, Susan E., Anselm, Irina, Lerner‐Ellis, Jordan P., Wong, Lee‐Jun, Levy, Harvey L., Berry, Gerard T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498818/
https://www.ncbi.nlm.nih.gov/pubmed/31240156
http://dx.doi.org/10.1002/jmd2.12018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498818/
https://www.ncbi.nlm.nih.gov/pubmed/31240156
http://dx.doi.org/10.1002/jmd2.12018

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