FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Keyphrases

• Mitochondrial Disease 100%
• Lactic Acidosis 100%
• MtDNA Depletion 100%
• FBXL4 100%
• Clinical Features 33%
• Early Onset 33%
• Sequence Analysis 16%
• Young children 16%
• Developmental Delay 16%
• Hypotonia 16%
• Definitive Diagnosis 16%
• Global Developmental Delay 16%
• Deleterious Variants 16%
• New Subjects 16%
• Missense Substitution 16%

Medicine and Dentistry

• Disorders of Mitochondrial Functions 100%
• Lactic Acidemia 100%
• Mitochondrial DNA Depletion Syndrome 100%
• Lactic Acidosis 66%
• Clinical Feature 33%
• Developmental Delay 33%
• Toddlers 16%
• Hypotonia 16%
• Protein Sequencing 16%
• Sequence Analysis 16%

Biochemistry, Genetics and Molecular Biology

• Mitochondrial Disorder 100%
• Mitochondrial Disease 100%
• Mitochondrial DNA Depletion Syndrome 100%
• Protein Sequencing 33%
• Missense 33%
• Shotgun Sequencing 33%