dystroglycanrelated
Dystroglycan is a key component of the dystrophin-glycoprotein complex, a crucial structural and signaling system that links the muscle cell cytoskeleton to the extracellular matrix. Mutations in genes encoding dystroglycan or proteins that modify it, such as those involved in glycosylation, can lead to a group of inherited disorders collectively referred to as dystroglycanopathies. These conditions are characterized by severe muscle weakness and damage.
The most common and severe forms of dystroglycanopathies are congenital muscular dystrophies, which manifest at birth
Diagnosis typically involves clinical assessment, muscle biopsy to examine protein expression and structure, and genetic testing