titin gene

An MDA-supported research team has added mutations in titin, a gene for a protein involved in muscle contraction, to the known causes of centronuclear myopathy

posted on September 23, 2013 - 5:00am
Researchers in the United States and France, supported in part by MDA, have established that mutations in the titin gene are a cause of centronuclear myopathy (CNM), a group of muscle disorders characterized by variable degrees of weakness and cell nuclei that are abnormally located toward the center of muscle fibers rather than around the perimeter.

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