Genetic and Molecular Study of Congenital Myopathies and Related Neuromuscular Diseases

What this Trial Is About

Researchers are studying congenital myopathies, a group of neuromuscular diseases present from birth, including central core disease, centronuclearmyotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON SEPN1 myopathy, RYR1 myopathy, ADSS1 ADSSL myopathy, and other undefined congenital myopathies. The goal is to better understand the genes and proteins involved in muscle function and disease to improve diagnosis and treatment in the future. The study involves identifying and describing new genes and proteins related to skeletal muscles and detecting genetic changes that cause neuromuscular diseases. Researchers study how these mutations are inherited in families and how they lead to muscle weakness. Participants with congenital myopathies provide medical records, blood or saliva samples, and muscle tissue samples if available. Family members are also invited to donate blood samples to help understand disease inheritance. Participants contribute medical records and biological samples for genetic and muscle tissue studies. The research team examines gene expression and protein levels to correlate with clinical symptoms. The main outcome is identifying genes responsible for neuromuscular diseases, a process that can take from several days to decades. The study welcomes participants worldwide, does not require travel to Boston, and participation is free of charge.

Molecular and Genetic Studies of Congenital Myopathies