More than 200 different myopathies have been described but nearly half of patients are still devoid of a genetic diagnosis, suggesting the implication of so far unlinked genes and unforeseen clinical and genetic heterogeneity. In addition, through comparative analyses of published mutations and DNA variant databases, we highlighted 256 published mutations that are described as non disease-causing polymorphisms and several genes whose implication in the disease needs to be confirmed. To address these issues, we launched a multi-disciplinary consortium (“Myocapture”) and sequenced >1000 exomes from affected families.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...