A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Neuromuscular Disorders

Volumn 17, Issue 2, 2007, Pages 148-156

  Milic, Astrid ^a   Daniele, Nathalie ^b   Lochmüller, Hanns ^c   Mora, Marina ^d   Comi, Giacomo P ^e   Moggio, Maurizio ^e   Noulet, Fanny ^b   Walter, Maggie C ^d   Morandi, Lucia ^d   Poupiot, Jérôme ^b   Roudaut, Carinne ^b   Bittner, Reginald E ^f   Bartoli, Marc ^b   Richard, Isabelle ^b  

^a UNIVERSITY OF ZAGREB   (Croatia)

^b CNRS   (France)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Calpain 3 proteolytic activity; Diagnosis; Dysferlin; LGMD2A

Indexed keywords

CALPAIN 3;

ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME ASSAY; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNODETECTION; IN VITRO STUDY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2A; MAJOR CLINICAL STUDY; MOUSE; MUSCLE BIOPSY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SENSITIVITY AND SPECIFICITY;

ANIMALS; BLOTTING, WESTERN; CALPAIN; DISEASE MODELS, ANIMAL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HETEROZYGOTE; HUMANS; MICE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NIH 3T3 CELLS; PHENOTYPE; REPRODUCIBILITY OF RESULTS; TISSUE BANKS; TRANSFECTION;

EID: 33847232234     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.11.001     Document Type: Article

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