Article
Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.
Human mutation - 1 Jan 2026
Malfatti Edoardo, Caramizaru Alexandru, Trentin Federica, Dumitrescu Andreea, Sali Luca, Bastian Alexandra, Lee Hane, Tajsharghi Homa, Verebi Camille, Nectoux Juliette, Leturcq France, Phadke Rahul, Sarkozy Anna, Manzur Adnan, Fodil Redouane, Dobrescu Amelia
Abstract excerpt
Limb-girdle muscular dystrophies (LGMDs) are disorders with an important clinical heterogeneity, usually involving proximal limb muscles. One subtype, LGMD R16 (LGMD 2P), is an autosomal recessive condition caused by pathogenic variants in DAG1, with clinical presentations ranging from mild to extremely severe forms. DAG1 is responsible for producing dystroglycan, an essential complex in the muscular protein...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.