Genetics of neuromuscular fetal akinesia in the genomics era.

Abstract excerpt

Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical...

Topics

• Animals
• Arthrogryposis
• Biomarkers
• Cell Differentiation
• Gene Expression Regulation
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genomics
• Humans
• Motor Neurons
• Nervous System Diseases