SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature
Samira Molaei Ramshe, Maryam Omidvar, Maryam Tabasinezhad, Behnam Alipoor, Tayyeb Ali Salmani, Hamid Ghaedi
Topics & Concepts
Missense mutationMitochondrial EncephalomyopathiesGeneticsIn silicoBiologyMitochondrial encephalomyopathyExome sequencingPhenotypeMutationGeneMitochondrial DNAExomeMitochondrial myopathyMitochondrial Function and PathologyATP Synthase and ATPases ResearchUbiquitin and proteasome pathways