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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Materias: | |
| 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 |