Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

Neuromuscular Disorders

Volumn 14, Issue 10, 2004, Pages 659-665

  Chrobáková, Táňa ^a,b   Hermanová, Markéta ^a   Kroupová, Iva ^a   Vondráček, Petr ^a   Maříková, Tat'ána ^c   Mazanec, Radim ^c   Zámečník, Josef ^c   Staněk, Jan ^d   Havlová, Miluše ^e   Fajkusová, Lenka ^a,b  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d UNIVERSITY HOSPITAL OSTRAVA   (Czech Republic)

^e CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Calpain3; Dysferlin; LGMD2A; Limb girdle muscular dystrophy; mRNA

Indexed keywords

CALPAIN 3; DYSFERLIN; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; CALPAINOPATHY; CHILD; CLINICAL ARTICLE; CZECH REPUBLIC; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; MUSCLE FIBER MEMBRANE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGED; ARGININE; BLOTTING, WESTERN; CALPAIN; CHILD; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; ISOENZYMES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRYPTOPHAN;

EID: 4444324529     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.05.005     Document Type: Article

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