Pauzner R, Blatt I, Mouallem M, Ben-David E, Farfel Z, Sadeh M
Department of Internal Medicine E, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Muscle Nerve. 1991 Oct;14(10):947-52. doi: 10.1002/mus.880141004.
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.
本文描述了一个患有眼咽型肌营养不良症（OPMD）的家庭。肌肉活检的组织学和组织化学研究显示出非特异性的肌病改变；未发现“破碎红”纤维。电子显微镜检查显示有形态怪异的大线粒体，其嵴异常，但未发现核内包涵体。我们的研究结果符合以下可能性，即OPMD是一种异质性综合征，可能是线粒体肌病的一种表现。
