How Do Mutations in Sarcomeric Proteins Affect Muscle Function?
Mutations in sarcomeric proteins can lead to various muscle diseases, such as cardiomyopathies and muscular dystrophies. For instance, mutations in the gene encoding titin can result in dilated cardiomyopathy, while defects in the dystrophin gene are linked to Duchenne muscular dystrophy. These mutations disrupt normal sarcomere function and lead to impaired muscle contraction and structural integrity.
