Novel cardiovascular findings in association with a POMT2 mutation: Three siblings with α-dystroglycanopathy

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 486-491

  Martinez, Hugo R ^a   Craigen, William J ^b   Ummat, Monika ^c   Adesina, Adekunle M ^b   Lotze, Timothy E ^c   Jefferies, John L ^d  

^a UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Dilated aortic root; Left ventricular systolic dysfunction; POMT2 gene mutation; Walker Warburg syndrome

Indexed keywords

ATENOLOL; ENALAPRIL;

ADOLESCENT; ADULT; ALPHA DYSTROGLYCANOPATHY; AORTA DISEASE; AORTOPATHY; ARTICLE; CARDIOVASCULAR DISEASE; CASE REPORT; ECHOCARDIOGRAPHY; GENE; GENETIC ASSOCIATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MYOCARDIAL DISEASE; PRIORITY JOURNAL; PROTEIN O MANNOSYLTRANSFERASE 2 GENE; SIBLING; WALKER WARBURG SYNDROME; YOUNG ADULT;

ADOLESCENT; CARDIOVASCULAR DISEASES; DYSTROGLYCANS; EXONS; GLYCOSYLATION; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MANNOSYLTRANSFERASES; MUTATION, MISSENSE; PHENOTYPE; SIBLINGS; WALKER-WARBURG SYNDROME; YOUNG ADULT;

EID: 84896547368     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.165     Document Type: Article

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