Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Journal of Human Genetics

Volumn 60, Issue 3, 2015, Pages 151-155

  Tsuda, Takeshi ^a   Fitzgerald, Kristi ^a   Scavena, Mena ^a   Gidding, Samuel ^a   Cox, Mary O ^b   Marks, Harold ^a   Flanigan, Kevin M ^c   Moore, Steven A ^b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSTROPHIN; MILRINONE; UTROPHIN;

AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CHILD; CONGESTIVE CARDIOMYOPATHY; CONTINUOUS INFUSION; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; EXON; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE FUNCTION; MUSCLE WEAKNESS; SCHOOL CHILD; SIBLING; ADOLESCENT; DISEASE COURSE; DNA MUTATIONAL ANALYSIS; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HEALTH; FATALITY; FEMALE; GENETICS; HEART FAILURE; INDEL MUTATION; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE; TIME FACTOR; WESTERN BLOTTING;

ADOLESCENT; BASE SEQUENCE; BLOTTING, WESTERN; CARDIOMYOPATHY, DILATED; CHILD; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; HEART FAILURE; HUMANS; INDEL MUTATION; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; PEDIGREE; SIBLINGS; TIME FACTORS;

EID: 84925792072     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.112     Document Type: Article

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