Molecular and Genetic Studies of Congenital Myopathies

The Congenital Myopathy Research Program at Boston Children's Hospital studies a group of rare inherited muscle diseases present from birth — including central core disease, nemaline myopathy, centronuclear myopathy, multiminicore disease, and others — with the goal of better understanding the genes and proteins involved, improving diagnosis, and developing future treatments. The study accepts participants from around the world and does not require travel to Boston. Anyone with a clinical or suspected diagnosis of a congenital myopathy, as well as their first-degree relatives, is eligible; the study does not include myotonia congenita or related conditions. Participation involves donating medical records, a blood or saliva sample (for genetic analysis), and muscle tissue samples if previously collected, at no cost to participants. This summary was prepared as patient-facing educational content using AI assistance.