Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.12.011
Abstract: Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2… read more here.
Keywords: clinical molecular; mitochondrial encephalomyopathy; consanguineous family; analysis ... See more keywords
Ketogenic and anaplerotic dietary modifications ameliorate seizure activity in Drosophila models of mitochondrial encephalomyopathy and glycolytic enzymopathy.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.01.008
Abstract: Seizures are a feature not only of the many forms of epilepsy, but also of global metabolic diseases such as mitochondrial encephalomyopathy (ME) and glycolytic enzymopathy (GE). Modern anti-epileptic drugs (AEDs) are successful in many… read more here.
Keywords: drosophila; mitochondrial encephalomyopathy; encephalomyopathy glycolytic; seizure ... See more keywords
Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000015534
Abstract: Rationale: Mitochondrial mutations are associated with a wide spectrum of clinical abnormalities. More than half of these mutations are distributed in the 22 mitochondrial tRNA genes, including tRNALeu(UUR). In particular, the A3243G mutation in the… read more here.
Keywords: patient; a3243g mutation; mitochondrial encephalomyopathy; causes mitochondrial ... See more keywords
Late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with mitochondrial DNA 3243A>G mutation masquerading as autoimmune encephalitis: A case report
Sign Up to like & getrecommendations! Published in 2023 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v11.i14.3275
Abstract: BACKGROUND Here, we present a unique case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, which initially appeared to be autoimmune encephalitis and was ultimately confirmed as MELAS with the mitochondrial DNA… read more here.
Keywords: lactic acidosis; autoimmune encephalitis; case; encephalomyopathy lactic ... See more keywords
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underlying pathogenesis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.1028762
Abstract: Objective Mitochondrial encephalomyopathy with lactic acidosis and stroke−like episodes (MELAS) is one of the most common inherited mitochondrial disorders. Due to the high clinical and genetic heterogeneity of MELAS, it is still a major challenge… read more here.
Keywords: stroke like; lactic acidosis; like episodes; encephalomyopathy lactic ... See more keywords