Limb-girdle muscular dystrophy 2G, telethonin gene mutation (Q86065)

Limb girdle muscular dystrophy (LGMD) type 2G belongs to the group of limb girdle muscular dystrophies which are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by anterior distal weakness and rimmed vacuoles.