LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments

Acta Myologica

Volumn 25, Issue 2, 2006, Pages 73-76

  Reilich, P ^a   Petersen, J A ^a   Vielhaber, S ^b   Mawrin, C ^c   Schneider Gold, C ^d   Sommer, C ^e   Reiners, K ^e   Deschauer, M ^f   Pongratz, D ^a   Lochmuller H ^a   Walter, Maggie C ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b OTTO VON GUERICKE UNIVERSITY   (Germany)

^c FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

^e UNIVERSITY OF WÜRZBURG   (Germany)

^f MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

FKRP; LGMD 2I; Myopathy with vacuoles

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN RELATED PROTEIN; POLYADENYLIC ACID BINDING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CELL INCLUSION; CELL VACUOLE; CLINICAL FEATURE; CONTROLLED STUDY; GENE; GENE MUTATION; GNE GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 21; MUSCLE BIOPSY; MYOFILAMENT; MYOPATHY; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PATHOGENESIS;

ADULT; CYTOSKELETON; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PROTEINS; VACUOLES;

EID: 33947422916     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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