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Several muscle diseases 3: LGMD2I, LGMD2B
1. LGMD2I (Limb-Girdle Muscular Dystrophy Type 2I - FKRP Deficiency): LGMD2I is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness and wasting, particularly affecting the muscles around the shoulders and hips. It is caused by mutations in the FKRP gene, leading to a glycosylation defect. This defect interferes with the proper glycosylation of alpha-dystroglycan, a protein crucial for maintaining muscle cell structure and function. The compromised glycosylation results …
