The purpose of this site is to introduce visitors to our research. The information that we provide on our Web site is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her physician. Our laboratory is part of the Division of Genetics at Boston Children's Hospital and is affiliated with Harvard Medical School. Our main goal is to study the basic biology of skeletal muscles and to use this information to understand the genes and proteins involved in the cause of neuromuscular disorders. We hope that what we learn will help us to develop better diagnostic tests, treatments and therapies for some of the congenital myopathies such as congenital fiber type disproportion, multiminicore disease, myotubular myopathy, nemaline myopathy, and congenital myopathies for which a specific diagnosis has not been established.
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