Mitochondrial abnormalities in oculopharyngeal muscular dystrophy
β Scribed by Dr.; MD Rachel Pauzner; MD Ilan Blatt; MD Meir Mouallem; Eitan Ben-David; MD Zvi Farfel; MD Menachem Sadeh
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 815 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-639X
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β¦ Synopsis
A family with oculopharyngeal muscular dystrophy (OPMD) is described. Histological and histochemical studies of muscle biopsy showed nonspecific myopathic changes; no "ragged-red'' fibers were seen. Electron microscopy demonstrated bizarre large mitochondria with abnormal cristae, but no intranuclear inclusion bodies. Our findings are compatible with the possibility that OPMD is a heterogeneous syndrome, and may be a manifestation of mitochondria1 myopathy.
π SIMILAR VOLUMES
Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestor
We report a new form of congenital muscular dystrophy (CMD) in 4 patients from three unrelated families with probable autosomalrecessive inheritance. All patients had the clinical characteristics of merosinpositive congenital muscular dystrophy, but had marked mental retardation. The disease was slo