Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Missense Mutation 50%
• Oxidative Phosphorylation 50%
• Exome Sequencing 50%
• Autosomal Recessive Inheritance 50%
• Intron 50%
• Mitochondrial Disease 50%
• Transfer RNA 50%
• SNP Array 50%
• Mitochondrial Disorder 50%

Keyphrases

• FARS2 100%
• Combined Oxidative Phosphorylation Deficiency 12%

Medicine and Dentistry

• Phenylalanine Transfer RNA Ligase 50%