Making sense of missense variants in TTN-related congenital myopathies

Abstract excerpt

Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN-related...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathy and Myosin Studies
• Share to Muscle Physiology and Disorders
• Share to Nuclear Structure and Function