Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

European Journal of Human Genetics

Volumn 20, Issue 12, 2012, Pages 1234-1239

  Bello, Luca ^a   Melacini, Paola ^a   Pezzani, Raffaele ^a   D'Amico, Adele ^b   Piva, Luisa ^a   Leonardi, Emanuela ^a   Torella, Annalaura ^c   Soraru, Gianni ^a   Palmieri, Arianna ^a   Smaniotto, Gessica ^a   Gavassini, Bruno F ^a   Vianello, Andrea ^d   Nigro, Vincenzo ^c,e   Bertini, Enrico ^b   Angelini, Corrado ^a   Tosatto, Silvio C E ^a   Pegoraro, Elena ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

a dystroglycan glycosylation; cardiomyopathy; CMD; LGMD; POMT1

Indexed keywords

ALPHA DYSTROGLYCAN; GLYCOSYLTRANSFERASE; LAMININ ALPHA2; PROTEIN O MANNOSYL TRANSFERASE 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CARDIOMYOPATHY; CASE REPORT; COGNITION; GENE MUTATION; HEART MUSCLE CONTRACTILE FORCE; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN FUNCTION; RESPIRATORY DISTRESS;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CARDIOMYOPATHIES; DYSTROGLYCANS; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MANNOSYLTRANSFERASES; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MYOCARDIAL CONTRACTION; PROTEIN FOLDING; SYNDROME;

EID: 84869206683     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.71     Document Type: Article

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