I.3Glycosylation related myopathies

Protein glycosylation is one of the major processes in human biology with at least 1% of our genes directly involved in this process. The important role of glycosylation for neuromuscular function is illustrated by the increasing number of inherited neuromuscular diseases that is being associated with metabolic disturbances in glycosylation pathways. Well known examples include the Muscular Dystrophy Dystroglycanopathy syndromes (Dystroglycanopathies) due to defective O-mannosylation of the sarcolemmal protein alpha-dystroglycan, GNE myopathy due to a defect in sialic acid biosynthesis, and congenital myasthenic syndromes due to defects in protein N-glycosylation.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research