Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature 1 . There are eight genetically distinct forms of AR LGMD, LGMD 2A–H (refs 2 – 10 ), and the genetic lesions underlying these forms, except f...

Ausführliche Beschreibung