Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1499-1503

  Kesari, Akanchha ^a   Neel, Robert ^b   Wagoner, Lynne ^b   Harmon, Brennan ^a   Spurney, Christopher ^c   Hoffman, Eric P ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI MEDICAL CENTER   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Dystrophin; Genetic normalization; Somatic mosaic

Indexed keywords

ARGININE; CREATINE KINASE; DNA; DYSTROPHIN; INOTROPIC AGENT; MESSENGER RNA;

ADULT; AORTA BALLOON; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; DYSPNEA; ECHOCARDIOGRAPHY; ELECTROMYOGRAM; FATIGUE; HEART CATHETERIZATION; HEART FAILURE; HEART LEFT VENTRICLE CONTRACTION; HEART LEFT VENTRICLE FAILURE; HEART MUSCLE; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOSAICISM; MUSCLE BIOPSY; MUSCLE WEAKNESS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKELETAL MUSCLE; SYNCOPE;

DYSTROPHIN; GENOTYPE; HUMANS; INCIDENTAL FINDINGS; MALE; MOSAICISM; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; PHENOTYPE; YOUNG ADULT;

EID: 67649871434     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32891     Document Type: Article

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