In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs
Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members
No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.
Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members.
Case-only
Other
Not listed
Identification of Neuromuscular Disease Genes
This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.
Characterization of Clinical Features of Congenital Myopathies
As known as known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.
Click on the lead sponsor to view all of their trials.
Boston Children's Hospital
Lead sponsor
Muscular Dystrophy Association
Collaborator
