Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy.
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.
Schober
R
R
Department of Neuropathology, University of Leipzig, Germany. neuropath@medizin.uni-leipzig.de
Kress
W
W
Grahmann
F
F
Kellermann
S
S
Baum
P
P
Günzel
S
S
Wagner
A
A
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
D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins