“Understanding Titinopathies”

The titinopathies were featured in the May 2024 MDA Quest magazine. Here’s an excerpt from the article:

“Can you tell us about titinopathies and the gene that causes them?

We currently know of more than 10 different muscle disease types in the group of titinopathies, which can cause disorders both severe and mild, from prenatal death to very mild, late-onset lower leg weakness. TTN is enormous — 50 times bigger than most genes — which means that disease-causing variants in different parts of the gene result in very different types of disease manifestations. Some TTN variants may cause only cardiomyopathy (disease of the heart muscle), others cause only skeletal muscle disease, and many titinopathies cause both muscle and heart conditions. Clinical and genetic screening of family members for cardiac and muscle conditions may be indicated.”

Click here to read the whole article: https://mdaquest.org/understanding-titinopathies/