The usefulness of high throughput sequencing for the diagnosis of hereditary diseases of neuromuscular system

Abstract

Hereditary diseases of the neuromuscular system represent an extensive group of genetically heterogeneous hereditary diseases characterized by pronounced clinical polymorphism. This report shows the feasibility of using high-throughput sequencing (HTS) methods for making the most accurate diagnosis of rare neuromuscular disorders, which in turn leads to the most favorable symptomatic care and helps in genetic counselling.