Xp21/A translocation: A rarely considered genetic cause for manifesting carriers of Duchenne muscular dystrophy

Neuropediatrics

Volumn 45, Issue 5, 2014, Pages 333-335

  Trippe, Heike ^a   Wieczorek, Stefan ^b   Kötting, Judith ^b   Kress, Wolfram ^c   Schara, Ulrike ^a  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

balanced translocation; manifesting DMD carrier; X chromosome inactivation

Indexed keywords

CREATINE KINASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSTROPHIN;

ARTICLE; CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION XP21 A; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; ECHOCARDIOGRAPHY; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENETIC ANALYZER; GENETIC PROCEDURES; HEREDITY; HETEROZYGOTE; HUMAN; HYPERTRANSAMINASEMIA; INTRON; KARYOTYPING; MENTAL DEFICIENCY; MOLECULAR GENETICS; MUSCLE BIOPSY; MYALGIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RATING SCALE; RISK FACTOR; WECHSLER INTELLIGENCE SCALES FOR CHILDREN FOURTH EDITION; X CHROMOSOME; X CHROMOSOME INACTIVATION; GENE TRANSLOCATION; GENETICS; MUSCULAR DYSTROPHY, DUCHENNE; NUCLEAR MAGNETIC RESONANCE IMAGING;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MUSCULAR DYSTROPHY, DUCHENNE; TRANSLOCATION, GENETIC;

EID: 84929301465     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0034-1383824     Document Type: Article

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