A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

Defects in two subunits of succinate-CoA ligase encoded by the genes SUCLG1 and SUCLA2 have been identified in mitochondrial DNA (mtDNA) depletion syndromes. Patients generally present with encephalomyopathy and mild methylmalonic acidemia (MMA), however mutations in SUCLG1 normally appear to result...

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Detalles Bibliográficos
Autores principales: Landsverk, Megan L., Zhang, Victor Wei, Wong, Lee-Jun C., Andersson, Hans C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121340/
https://www.ncbi.nlm.nih.gov/pubmed/27896121
http://dx.doi.org/10.1016/j.ymgmr.2014.09.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121340/
https://www.ncbi.nlm.nih.gov/pubmed/27896121
http://dx.doi.org/10.1016/j.ymgmr.2014.09.007

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