Phenotypic consequences of a novel SCO2 gene mutation

Medicine and Dentistry

• Gene Mutation 100%
• Muscle Biopsy 100%
• Hypertrophic Cardiomyopathy 100%
• Diagnosis 50%
• Genetic Screening 50%
• Oxidative Phosphorylation 50%
• Nonsense Mutation 50%
• Pregnancy 50%
• Congenital Malformation 50%
• Amniocentesis 50%
• Neonatal Infant 50%
• Congestive Heart Failure 50%
• Hypotonia 50%
• Oxidoreductase 50%
• Biochemical Analysis 50%
• Inborn Error of Metabolism 50%
• Cytochrome C Oxidase 50%
• Skeletal Muscle 50%
• Myocardial Disease 50%

Keyphrases

• Gene mutation 100%
• Phenotypic Outcome 100%
• Supercritical CO2 (SCO2) 100%
• Index Patient 28%
• Muscle Biopsy 28%
• Hypertrophic Cardiomyopathy 28%
• Cardiomyopathy 14%
• Heart Failure 14%
• Pathological Findings 14%
• Genetic Testing 14%
• Histology 14%
• Coding Region 14%
• Diagnostic Test 14%
• Nonsense mutation 14%
• Skeletal muscle 14%
• Oxidative Phosphorylation (OXPHOS) 14%
• Autopsy 14%
• Compound Heterozygous mutation 14%
• Derangement 14%
• Biochemical Studies 14%
• Biochemical Analysis 14%
• Amniocentesis 14%
• Week of Gestation 14%
• Hypotonia 14%
• Multiple Congenital Anomalies 14%
• Inborn Errors of Metabolism 14%
• Termination of Pregnancy 14%
• Heart muscle 14%
• Prenatal Origin 14%
• Cytochrome c Oxidase Assembly 14%
• Oxidase 14%
• Complexity System 14%