Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only

Immunology and Microbiology

• Genome Sequencing 100%
• Offspring 50%
• Arm 50%
• Whole Exome Sequencing 50%

Biochemistry, Genetics and Molecular Biology

• Genome Sequencing 100%
• Exome Sequencing 16%
• Penetrance 16%
• Body Position 16%
• Offspring 16%

Neuroscience

• Dystonia 100%
• Parkinsonism 44%
• Stereotypic Movement Disorder 11%
• Exome Sequencing 11%