Limb-girdle muscular dystrophy 2I, fukutin related protein gene mutation (Q86058)

Limb girdle muscular dystrophy (LGMD) type 2I 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 a clinical spectrum ranging from severe congenital muscular dystrophy to mild forms of limb girdle muscular dystrophy.