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Muscle Protein Alterations in LGMD21 Patients With Different Mutations in the Fukutin-related Protein Gene
(HISTOCHEMICAL SOC INC, 2008)
Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder ...
Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil
(Blackwell Munksgaard, 2002-08-01)
Introduction We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy ( FCMD). He is the first case report in the Japanese population ...