Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

Muscle and Nerve

Volumn 33, Issue 3, 2006, Pages 424-432

  Hermanová, Markéta ^a   Zapletalová, Eva ^a   Sedláčková, Jana ^a   Chrobáková, Táňa ^a   Letocha, Ondřej ^a   Kroupová, Iva ^a   Zámečník, Josef ^b   Vondráček, Petr ^a   Mazanec, Radim ^b   Maříková, Taťána ^b   Voháňka, Stanislav ^a   Fajkusová, Lenka ^a  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

LGMD2A; Muscle biopsy; Mutational analysis; Neurogenic pattern

Indexed keywords

CALPAIN; CALPAIN 3; DNA; DYSFERLIN; MESSENGER RNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAPN3 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CZECH REPUBLIC; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE FIBER MEMBRANE; MUSCLE WEAKNESS; NONSENSE MUTATION; PATHOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SHOULDER GIRDLE; SKELETAL MUSCLE;

ADOLESCENT; ADULT; ALLELES; CALPAIN; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; ISOENZYMES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NAD; NERVE TISSUE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 33644502934     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20480     Document Type: Article

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