Mitochondrial abnormalities in oculopharyngeal muscular dystrophy.
作者信息
Pauzner R, Blatt I, Mouallem M, Ben-David E, Farfel Z, Sadeh M
机构信息
Department of Internal Medicine E, Chaim Sheba Medical Center, Tel Hashomer, Israel.
出版信息
Muscle Nerve. 1991 Oct;14(10):947-52. doi: 10.1002/mus.880141004.
PMID:1944407
Abstract
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 mitochondrial myopathy.
摘要
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