Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia

Keyphrases

• Transfer RNA (tRNA) 100%
• Autosomal Recessive 100%
• Cerebellar Ataxia 100%
• Histidine 100%
• Guanylyltransferase 100%
• Autosomal Recessive Ataxia 60%
• Mitochondria 40%
• Homozygote 40%
• Ashkenazi Jews 40%
• GnomAD 40%
• Mitochondrial Network 20%
• 5′-end 20%
• Clinical Phenotype 20%
• Clinical Course 20%
• Bioinformatics Analysis 20%
• Developmental Delay 20%
• Fibroblasts 20%
• Gene Products 20%
• Guanine 20%
• Metazoan 20%
• Cerebellar Atrophy 20%
• Early Onset 20%
• Brain Magnetic Resonance Imaging 20%
• Severely Affected 20%
• Allele Frequency 20%
• Oxidative Phosphorylation (OXPHOS) 20%
• Jewish Patients 20%
• Homozygous Variant 20%
• Carrier Rate 20%
• Cerebellar Dysfunction 20%
• Molecular Etiology 20%
• Pyramidal Signs 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Recessive Inheritance 100%
• Histidine 100%
• Transfer RNA 100%
• Mitochondrion 40%
• Homozygote 40%
• Genetics 20%
• Gene Product 20%
• Oxidative Phosphorylation 20%
• Gene Frequency 20%
• Guanine 20%
• Fibroblast 20%
• Bioinformatics 20%
• Magnetic Resonance Imaging 20%

Neuroscience

• Transfer RNA 100%
• Ataxia 100%
• Histidine 100%
• Mitochondrion 40%
• Magnetic Resonance Imaging 20%
• Gene Product 20%
• Oxidative Phosphorylation 20%
• Guanine 20%
• Fibroblast 20%