Congenital type IV glycogenosis: The spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

Acta Neuropathologica

Volumn 116, Issue 5, 2008, Pages 491-506

  Nolte, Kay W ^a   Janecke, Andreas R ^b   Vorgerd, Matthias ^c   Weis, Joachim ^a   Schröder, J Michael ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

CDNA; Genotype phenotype analysis; Glycogen branching enzyme; Glycogen storage disease type IV; Muscle and sural nerve biopsy; Polyglucosan body myopathy; Prenatal testing; Spinal cord autopsy

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; 1,4 ALPHA GLUCAN BRANCHING ENZYME 1; UNCLASSIFIED DRUG;

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CELL INCLUSION; ELECTRON MICROSCOPY; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 4; HUMAN; HUMAN TISSUE; INFANT; INFANTILE HYPOTONIA; LUNG DYSPLASIA; MACROPHAGE; MALE; MICROGLIA; MUSCLE BIOPSY; MUSCLE CELL; NEWBORN; PATHOGENESIS; PERIODIC ACID SCHIFF STAIN; PREMATURITY; PRIORITY JOURNAL; SCHWANN CELL;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; FEMALE; GLUCANS; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INCLUSION BODIES; INFANT; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUTATION; PREGNANCY; SPINAL CORD; SURAL NERVE;

EID: 54149090416     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0417-8     Document Type: Article

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