Mitochondriale chronisch progressive externe ophthalmoplegie: Variabilität der genotyp-phänotyp-beziehung

Keyphrases

• Point mutation 100%
• Mitochondrial Disease 100%
• Genotype-phenotype Association 100%
• Single Deletion 100%
• Multiple Deletions 100%
• Autosomal Recessive Inheritance 100%
• Chronic Progressive External Ophthalmoplegia 100%
• Most Common Form 50%
• Genotype 50%
• Deletion mutation 50%
• High Variability 50%
• Genetic Investigation 50%
• Molecular Genetics 50%
• Nuclear Genes 50%
• Gene Defects 50%
• Maternal Inheritance 50%

Biochemistry, Genetics and Molecular Biology

• Genotyping 100%
• Mitochondrial Disorder 100%
• Point Mutation 100%
• Chronic Progressive External Ophthalmoplegia 100%
• Nuclear Gene 50%
• Molecular Genetics 50%
• Autosomal Recessive Inheritance 50%
• Autosomal Dominant Inheritance 50%
• Maternal Inheritance 50%

Neuroscience

• Chronic Progressive External Ophthalmoplegia 100%
• Point Mutation 100%