Helping us understand congenital myopathies: a new study of changes to an important muscle protein is providing insights
Some congenital myopathies and other muscle conditions are caused by changes in the gene that makes a protein called RyR1. In people living with these conditions, different types of changes, known as modifications, have been found on a protein involved in muscle contraction, called myosin. This research, partly funded by Muscular Dystrophy UK, may help to understand RyR1-related muscle wasting conditions and could lead to the development of new treatments.
Some congenital myopathies and other muscle conditions are caused by changes in the gene that makes a protein called RyR1. In people living with these conditions, different types of changes, known as modifications, have been found on a protein involved in muscle contraction, called myosin. This research, partly funded by Muscular Dystrophy UK, may help to understand RyR1-related muscle wasting conditions and could lead to the development of new treatments.