Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

Keyphrases

• Myoclonus 100%
• Tyrosine Hydroxylase Deficiency 100%
• Electrophysiology 50%
• Promoter Region 50%
• Synonymous Substitution 50%
• Compound Heterozygous mutation 50%
• Myoclonus-dystonia 50%
• TH Gene 50%
• Protein Structure 25%
• Genetic Analysis 25%
• Early Treatment 25%
• Point mutation 25%
• Dystonia 25%
• Deleterious Effects 25%
• In Silico Prediction 25%
• Novel Variants 25%
• Protein Function 25%
• Levodopa 25%
• Differential Diagnosis 25%
• African Ancestry 25%
• Clinical Examination 25%
• Non-synonymous mutation 25%
• Levodopa-responsive 25%
• Phenotypic Spectrum 25%
• Clinical Spectrum 25%
• Exon 12 25%
• New Genotype 25%
• New Phenotypes 25%

Medicine and Dentistry

• Tyrosine 3 Monooxygenase 100%
• Myoclonic dystonia 100%
• Myoclonus 75%
• Promoter Region 50%
• Heterozygosity 50%
• Levodopa 50%
• Electrophysiology 50%
• Genetic Analysis 25%
• Differential Diagnosis 25%
• Point Mutation 25%
• In Silico 25%
• Dystonia 25%
• Clinical Examination 25%
• Protein Structure 25%
• Allele 25%
• Exon 25%
• Diseases 25%
• Protein Function 25%

Biochemistry, Genetics and Molecular Biology

• Tyrosine Hydroxylase 100%
• Nonsynonymous Substitution 50%
• Compound Heterozygosity 50%
• Genetics 50%
• Promoter Region 50%
• Electrophysiology 50%
• Genotyping 25%
• Protein Function 25%
• Point Mutation 25%
• Allele 25%
• Exon 25%
• Protein Structure 25%