Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach

Neuromuscular Disorders

Volumn 19, Issue 4, 2009, Pages 250-254

  Brabec, Petr ^a   Vondráček, Petr ^b   Klimeš, Daniel ^a   Baumeister, Sarah ^c   Lochmüller, Hanns ^d   Pavlík, Tomáš ^a   Gregor, Jakub ^a  

^a MASARYK UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Database; Duchenne and Becker muscular dystrophy; Female carrier; Neuromuscular disorder; Registry

Indexed keywords

DYSTROPHIN; MESSENGER RNA; PTC 124; STEROID;

ADOLESCENT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL FEATURE; CLINICAL RESEARCH; CONTROLLED STUDY; CZECH REPUBLIC; DATA BASE; DISEASE REGISTRY; DUCHENNE MUSCULAR DYSTROPHY; FOLLOW UP; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MEDICAL DOCUMENTATION; MEDICAL RECORD; PATIENT SELECTION; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; RNA SPLICING; SLOVAKIA;

CHILD; CLINICAL TRIALS AS TOPIC; CZECH REPUBLIC; DATA COLLECTION; DATABASES AS TOPIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCLE PROTEINS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PATIENT SELECTION; REGISTRIES; SLOVAKIA;

EID: 63749099832     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.01.005     Document Type: Article

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