Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients

Clinical Neuropathology

Volumn 26, Issue 4, 2007, Pages 157-163

  Hanisch, F ^a   Muller C R ^b   Grimm, D ^a   Xue, L ^a   Traufeller, K ^a   Merkenschlager, A ^c   Zierz, S ^a   Deschauer, M ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Allele specific amplification (ASA); Calpain 3 deficiency; CAPN3 gene; HyperCKemia; LGMD2A

Indexed keywords

CALPAIN 3; CREATINE KINASE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; FATIGUE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GERMANY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; MUSCLE BIOPSY; MYALGIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; WESTERN BLOTTING;

EID: 34347403691     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp26157     Document Type: Article

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