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JOURNAL OF APPLIED PHYSIOLOGY, ISSN 8750-7587, 12/2017, Volume 123, Issue 6, pp. 1698 - 1707
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 06/2018, Volume 11, Issue C, pp. 216 - 227
Autosomal recessive homozygous or compound heterozygous mutations in result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical... 
FKRP | pathogenic variant | LGMD2I | gene therapy | glycosylation | dystroglycan | mutant | MEDICINE, RESEARCH & EXPERIMENTAL | ALPHA-DYSTROGLYCAN | CONGENITAL MUSCULAR-DYSTROPHY | MUSCLE REGENERATION | VIRUS | FUKUTIN-RELATED PROTEIN | LAMININ | GLYCOPROTEIN COMPLEX | GENE-THERAPY | RIBITOL-PHOSPHATE | MUTATIONS
Journal Article
Journal of Applied Physiology, ISSN 8750-7587, 11/2017, Volume 123, Issue 5, pp. 1126 - 1138
The fukutin-related protein P448L mutant mouse replicates many pathologies common to limb girdle muscular dystrophy 2i (LGMD2i) and is a potentially strong... 
Heart | Muscle | Exercise | LGMD2i | Muscular dystrophy | ALPHA-DYSTROGLYCAN | MDX MOUSE | SPORT SCIENCES | PHYSIOLOGY | FUKUTIN-RELATED PROTEIN | exercise | DILATED CARDIOMYOPATHY | GLYCOSYLATION | heart | OXYGEN | muscular dystrophy | GENE | muscle | MICE | EXPRESSION | Gait | Ventricular Function, Left | Male | Muscle, Skeletal - metabolism | Time Factors | Mice, Mutant Strains | Muscular Dystrophies, Limb-Girdle - genetics | Echocardiography, Doppler | Female | Muscular Dystrophies, Limb-Girdle - diagnostic imaging | Muscle Fatigue | Muscle Strength | Disease Models, Animal | Heart - physiopathology | Genetic Predisposition to Disease | Mice, Inbred C57BL | Muscular Dystrophies, Limb-Girdle - physiopathology | Oxygen Consumption | Sex Characteristics | Heart - diagnostic imaging | Proteins - genetics | Stroke Volume | Phenotype | Animals | Muscular Dystrophies, Limb-Girdle - metabolism | Energy Metabolism | Muscle, Skeletal - physiopathology | Exercise Tolerance | Fibrosis | Sex Factors | Running | Muscle, Skeletal - pathology | Mutation | Metabolic rate | Physical training | Creatine kinase | Clinical trials | Isoproterenol | Creatine | Drug screening | Rodents | Treadmills | FCMD protein | Sexual dimorphism | Heart diseases | Echocardiography | Cardiac muscle | Markers | Muscles | Oxygen consumption | Calories | Skeletal muscle | Mice | Dystrophy | Ventricle | Cardiac output | Ejection | Index Medicus
Journal Article
Journal Article
Revue Neurologique, ISSN 0035-3787, 2007, Volume 163, Issue 2, pp. 189 - 196
La dystrophie musculaire des ceintures de type 2I est secondaire aux mutations du gène de la ( ). Cette étude a pour objectif d’évaluer les caractéristiques... 
α-dystroglycan | FKRP | Cardiomyopathie | LGMD2I | Myocardiopathy
Journal Article