A new mouse model of limb-girdle muscular dystrophy type 2I homozygous for the common L276I mutation mimicking the mild phenotype in humans

Journal of Neuropathology and Experimental Neurology

Volumn 74, Issue 12, 2015, Pages 1137-1146

  Krag, Thomas O ^a   Vissing, John ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Fukutin related protein; Knock in; Knockout; Limb girdle muscular dystrophy type 2I; Myopathy; Dystroglycan

Indexed keywords

BETA DYSTROGLYCAN; FUKUTIN RELATED PROTEIN; ALPHA DYSTROGLYCAN; NEOMYCIN; AUTOANTIGEN; FKRP PROTEIN, HUMAN; GOLGI COMPLEX AUTOANTIGEN, 97-KDA; GT(ROSA)26SOR NON-CODING RNA, MOUSE; ISOLEUCINE; LEUCINE; PROTEIN; UNTRANSLATED RNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE INACTIVATION; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2I; MOUSE; MUSCLE REGENERATION; MYOFIBROSIS; MYOPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; WESTERN BLOTTING; CERVICAL SPINE DISLOCATION; CONNECTIVE TISSUE; CROSS-SECTIONAL STUDY; EXTENSOR DIGITORUM LONGUS MUSCLE; FIBROSIS; GENE FREQUENCY; GENOTYPING; HISTOLOGY; AGE; ANIMAL; DISEASE MODEL; GENETICS; GENOTYPE; HUMAN; METABOLISM; MUTATION; PATHOLOGY; TRANSGENIC MOUSE;

AGE FACTORS; ANIMALS; AUTOANTIGENS; DISEASE MODELS, ANIMAL; GENOTYPE; HUMANS; ISOLEUCINE; LEUCINE; MICE; MICE, TRANSGENIC; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; PROTEINS; RNA, UNTRANSLATED;

EID: 84947918465     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/NEN.0000000000000260     Document Type: Article

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