Необходимость применения методов высокопроизводительного секвенирования в диагностике наследственных заболеваний нервно-мышечной системы

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.