Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A

Brain

Volumn 130, Issue 12, 2007, Pages 3237-3249

  Groen, Emma J ^a   Charlton, Richard ^a   Barresi, Rita ^a   Anderson, Louise V ^a   Eagle, Michelle ^a   Hudson, Judith ^a   Koref, Mauro Santibanez ^a   Straub, Volker ^a   Bushby, Katharine M D ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Calpain 3; CAPN3 mutation; Limb girdle muscular dystrophy type 2A; Western blotting

Indexed keywords

ANTIBODY; CALPAIN 3;

ADOLESCENT; ADULT; ANTIBODY DETECTION; AUTOLYSIS; CHEMICAL ANALYSIS; CHILD; CLINICAL FEATURE; CONTRACTURE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; LIMB GIRDLE MUSCLE DYSTROPHY 2A; MAJOR CLINICAL STUDY; MALE; MOLECULAR WEIGHT; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; RESPIRATORY FUNCTION; REVIEW; SCAPULA; WESTERN BLOTTING;

EID: 36749092258     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm259     Document Type: Review

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