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Mutations in the FKRP gene encoding the fukutin-related protein (FKRP) cause a wide spectrum of myopathies, ranging from severe forms of congenital muscular dystrophies associated with structural abnormalities of the central nervous system, to exertional myalgia or asymptomatic hyperCKemia, and to a form of limb girdle muscular dystrophy, LGMD-R9, (ex-LGMD-2I). LGMD-R9 is characterized by a proximal girdle deficit predominantly in the lower limbs to start with, with respiratory and cardiac damage that may affect the vital prognosis. Ser