Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase

European Journal of Human Genetics

Volumn 18, Issue 10, 2010, Pages 1160-1165

  Levitas, Aviva ^a,b   Muhammad, Emad ^a   Harel, Gali ^a   Saada, Ann ^c   Caspi, Vered Chalifa ^a   Manor, Esther ^a,d   Beck, John C ^d   Sheffield, Val ^d   Parvari, Ruti ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

mutation; neonatal isolated cardiomyopathy; recessive inheritance; SDHA

Indexed keywords

FLAVOPROTEIN; GENOMIC DNA; SUCCINATE DEHYDROGENASE;

ARTICLE; CARDIOGENIC SHOCK; CARDIOMEGALY; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; LYMPHOBLASTOID CELL; MEDICAL RECORD REVIEW; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RESPIRATORY DISTRESS; SKELETAL MUSCLE;

ARABS; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DEATH, SUDDEN, CARDIAC; ELECTRON TRANSPORT COMPLEX II; FAMILY; FEMALE; FLAVOPROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PROTEIN SUBUNITS; SUCCINATE DEHYDROGENASE;

EID: 77957128549     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.83     Document Type: Article

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