Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

Neuropathology

Volumn 21, Issue 1, 2001, Pages 45-52

  Schober, Ralf ^a   Kreß, Wolfram ^b   Grahmann, Friedrich ^a   Kellermann, Steffen ^a   Baum, Petra ^a   Günzel, Steffen ^a   Wagner, Armin ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Muscle biopsy; Neurogenic changes; Oculopharyngeal muscular dystrophy (OPMD); Triplet repeat expansion

Indexed keywords

BINDING PROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL STRUCTURE; CLINICAL FEATURE; ELECTROMYOGRAPHY; EXON; FEMALE; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; NUCLEOTIDE REPEAT; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL;

BIOPSY; ELECTROMYOGRAPHY; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NUCLEAR FAMILY; PEDIGREE; PHENOTYPE; POLY(A)-BINDING PROTEINS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0035068493     PISSN: 09196544     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1789.2001.00374.x     Document Type: Article

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