title: Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy.
abstract: The occasional observation of neurogenic features in oculopharyngeal muscular dystrophy (OPMD) is unclear both in nosological and in etiological respects. Studies are reported here of a family with autosomal-dominant OPMD involving seven members over three generations. In three of them muscle biopsies were performed. Two of the patients (a 45-year-old sister and a 57-year-old brother of the third generation) were studied in more detail and, in addition to the typical changes of OPMD, showed a neurogenic component both by electrophysiology and morphology. Molecular genetic investigations revealed a repeat unit of (GCG/GCA)13 in the first exon of the poly(A)binding-protein2 gene in both siblings. A possible association of this unusually long triplet repeat extension with the atypical phenotype is considered and has to be verified in other cases.
authors: Department of Neuropathology, University of Leipzig, Germany. neuropath@medizin.uni-leipzig.de
authors: R
authors: R
authors: Schober
authors: W
authors: W
authors: Kress
authors: F
authors: F
authors: Grahmann
authors: S
authors: S
authors: Kellermann
authors: P
authors: P
authors: Baum
authors: S
authors: S
authors: Günzel
authors: A
authors: A
authors: Wagner
mesh_terms: D001706:Biopsy; D004576:Electromyography; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009679:Nuclear Family; D010375:Pedigree; D010641:Phenotype; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins