Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations

Journal of Medical Genetics

Volumn 37, Issue 2, 2000, Pages 102-107

  Barresi, Rita ^a   Morandi, Lucia ^a   Mora, Marina ^a   Di Blasi, Claudia ^a   Negri, Tiziana ^a   Brugnoni, Raffaella ^a   Vitali, Andrea ^b   Felisari, Giorgio ^c   Salandi, Antonio ^c   Daniel, Sergio ^a   Cornelio, Ferdinando ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Ospedale Moriggia Pelascini   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

Author keywords

Cardiomyopathy; Dystrophin associated proteins; Limb girdle muscular dystrophy; Sarcoglycans

Indexed keywords

DNA; SARCOGLYCAN;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CARDIOMYOPATHY; CASE REPORT; DISEASE SEVERITY; GENE MUTATION; HEART MUSCLE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SKELETAL MUSCLE;

ADOLESCENT; ADULT; BASE SEQUENCE; CARDIOMYOPATHIES; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; DYSTROPHIN; EXONS; FATAL OUTCOME; FEMALE; GENE DUPLICATION; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; MYOCARDIUM; PEDIGREE; PHENOTYPE;

EID: 0034063935     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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