Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Keyphrases

• Epileptic Encephalopathy 100%
• TIMM50 100%
• 3-methylglutaconic Aciduria 100%
• Factor V Deficiency 100%
• Genome Analysis 40%
• Mitochondrial Complex V 40%
• Severe Intellectual Disability 40%
• Evolutionary 20%
• Conserved Residues 20%
• Mitochondria-associated Membranes 20%
• Epilepsy 20%
• Missense mutation 20%
• Heterogeneous Groups 20%
• Intellectual Disability 20%
• Developmental Delay 20%
• Homozygous mutation 20%
• Graves 20%
• Lactate Level 20%
• Large Cohort 20%
• TIM23 Complex 20%
• Intermembrane Space 20%
• Homozygous Missense mutation 20%
• Mitochondrial Import Machinery 20%
• Exome 20%
• Mitochondrial Encephalopathy 20%
• Elevated Lactate 20%
• Ethnic-specific 20%
• Mitochondrial Dysfunction 20%
• Mitochondrial Inner Membrane 20%
• Membrane Defects 20%
• Seizure Disorder 20%
• Genetic Matching 20%
• Intractable Epilepsy 20%

Biochemistry, Genetics and Molecular Biology

• Exome 100%
• Missense Mutation 66%
• Intellectual Disability 66%
• Outer Mitochondrial Membrane 33%
• Intermembrane Space 33%
• Inner Mitochondrial Membrane 33%
• Mitochondrial Membrane 33%
• Mitochondrial Disorder 33%