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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


Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy

Recruitment Status


Detailed Description

The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies. We are taking two approaches to reach our research goals. The first involves identifying and describing new genes and proteins involved in the skeletal muscles that allow our bodies to move. Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our second approach is to identify mutations, learn how they are inherited in families, and understand how they lead to weakness in individuals with neuromuscular disease. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals. Our research would not be possible without the generous participation of individuals and families with congenital myopathies. Participation in our studies is free of charge. Travel to Boston is not required, and we welcome the participation of individuals from around the world. We appreciate the participation of all individuals with a congenital myopathy, as well as their first-degree relatives. Participants with a congenital myopathy are asked to donate medical records, a blood or saliva sample, and a muscle tissue sample (if available). Participating relatives are asked to donate a blood sample. The blood/saliva sample is used to acquire DNA (genetic material) which can be used to identify genetic changes and to study how a disease is inherited in a family. The medical records are employed to understand a participant's symptoms. The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies. For more information, visit the Laboratory Website at

Eligibility Criteria

Inclusion Criteria:

Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members

Exclusion Criteria:

No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.



Min Age


Max Age


Download Date

June 18, 2024

Principal Investigator

Alan H. Beggs

Primary Contact Information

Casie Genetti, M.S. C.G.C.

(617) 919-2169

For more information on this trial, visit


For more information and to contact the study team:

Molecular and Genetic Studies of Congenital Myopathies NCT00272883 Casie Genetti, M.S. C.G.C. (617) 919-2169 Beggs lab