## Abstract This study aims to perform gene diagnosis for Chinese family patients with Oculopharyngeal muscular dystrophy (OPMD). Genomic DNAs were extracted from the pedigrees' members. Gene diagnosis was performed for these pedigrees' members by approaches, such as DNA sequencing and GeneScan. Se
Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
β Scribed by Yassine Boukriche; Thierry Maisonobe; Catherine Masson
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 217 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-639X
- DOI
- 10.1002/mus.1213
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Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. The OPMD-locus has been mapped to chromosome 14q11.2-q13. The polyadenylate binding protein nuclear 1 (PABPN1; PABP2) gene has been identified as the mutated gene. The mutation consists of a short meiotical
Transcranial stimulation was performed in 4 patients with Duchenne muscular dystrophy and 4 control subjects. The patients' central motor conduction time was normal. The threshold for evoking electromyographic responses using electrical anodal stimulation was the same in both groups, but the thresho
## Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant myopathy found world-wide, but with the highest incidence in French-Canadians. Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Can
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