A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

Keyphrases

• Mitochondrial DNA mutation 100%
• Homozygous Deletion 100%
• SAM Domain 100%
• HD Domain 100%
• Aicardi 100%
• Fetus 50%
• Neurodegenerative Diseases 50%
• Large Deletion 50%
• Ribonuclease 50%
• H2A.B 50%
• Clinical Symptoms 25%
• Mitochondrial DNA 25%
• Cell-intrinsic 25%
• Molecular Analysis 25%
• Mitochondria 25%
• White Matter 25%
• Molecular Characterization 25%
• Whole Genome 25%
• Innate Immunity Activation 25%
• Affected children 25%
• Causative Gene 25%
• Normal Sequences 25%
• Autosomal Recessive 25%
• Homozygosity Mapping 25%
• Muscle Biopsy 25%
• Southern Blot Analysis 25%
• Respiratory Chain Deficiency 25%
• ANT1 25%
• Clinical Characterization 25%
• Congenital Viral Infection 25%
• Self-activation 25%
• Twinkle 25%
• Intrinsic Components 25%

Biochemistry, Genetics and Molecular Biology

• HD Domain 100%
• Sterile Alpha Motif 100%
• Mitochondrial DNA 100%
• Ribonuclease 40%
• POLG 40%
• Genetics 20%
• Promoter Region 20%
• Homozygosity 20%
• Mitochondrion 20%
• Intron 20%
• Electron Transport Chain 20%
• Autosomal Recessive Inheritance 20%
• Innate Immunity 20%
• Southern Blotting 20%

Medicine and Dentistry

• Mitochondrial DNA 100%
• Sterile Alpha Motif 100%
• Neurodegenerative Disorder 40%
• Ribonuclease 40%
• Intron 20%
• Virus Infection 20%
• Innate Immunity 20%
• Promoter Region 20%
• Mitochondrion 20%
• Homozygosity 20%
• Autosomal Recessive Inheritance 20%
• Muscle Biopsy 20%
• Southern Blotting 20%
• Respiratory Chain 20%