Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3025-3029

  Martinez, Hugo R ^a   Pignatelli, Ricardo ^a   Belmont, John W ^b   Craigen, William J ^b   Jefferies, John L ^a,c  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c ST LUKE S EPISCOPAL HOSPITAL   (United States)

Author keywords

Duchenne muscular dystrophy; Dystrophin; Left ventricular dysfunction; Manifesting carriers

Indexed keywords

CARVEDILOL; CREATINE KINASE; DYSFERLIN; DYSTROPHIN; ENALAPRIL; LIVER ENZYME;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPREHENSION; CREATINE KINASE BLOOD LEVEL; DNA DETERMINATION; DRUG DOSE TITRATION; DUCHENNE MUSCULAR DYSTROPHY; ELECTROCARDIOGRAPHY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; HEART FUNCTION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LANGUAGE DEVELOPMENT; LEARNING DISORDER; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOCARDIAL DISEASE; PRIORITY JOURNAL; SCHOOL CHILD; STOP CODON; THORAX RADIOGRAPHY; WECHSLER INTELLIGENCE SCALE; X CHROMOSOME INACTIVATION;

CHILD; CHILD, PRESCHOOL; DYSTROPHIN; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; VENTRICULAR DYSFUNCTION, LEFT;

EID: 81955165177     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33784     Document Type: Article

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