MYOPATHY WITH RESPIRATORY-FAILURE AND TYPICAL MYOFIBRILLAR LESIONS
MYOPATHY WITH RESPIRATORY-FAILURE AND TYPICAL MYOFIBRILLAR LESIONS
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DOI：
10.1016/0022-510x(90)90134-9
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发表时间：
1990-05-01
影响因子：
4.4
通讯作者：
SAMUELSSON, M
中科院分区：
文献类型：
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作者：
EDSTROM, L;THORNELL, LE;SAMUELSSON, M
16例患者代表7个不同的家系表现出一种不寻常的，成人发病的肢带肌病与典型的临床特征。在大多数情况下，有常染色体显性遗传的证据。在所有病例中，一个突出的早期发现是呼吸肌无力，在许多病例中，急性呼吸功能丧失是第一次神经系统检查的原因。颈部屈肌和有时脚伸肌无力是其他早期症状。其临床表现似乎与更广为人知的遗传性肌病不同。电生理分析证实了肌病，血清肌酶浓度正常或略有升高。肌肉活检结果显示肌原纤维的变化，在光学显微镜水平，包括斑块染色强烈罗丹明共轭鬼笔环肽，一个特定的标记F-肌动蛋白。在超微结构水平上，观察到这些斑块由中等密度的细丝组成，并与Z盘分裂或Z盘形成的延伸有关。我们认为，肌肉活检的细胞化学和超微结构的观察表明，缺陷的肌原纤维的变化，和缺陷的肌动蛋白聚合的可能性进行了讨论。结论性的答案需要进一步的免疫细胞化学和免疫电泳研究，并可能应用分子遗传学。
16 patients representing 7 different pedigrees exhibited an unusual, adult onset limb-girdle myopathy with typical clinical hallmarks. In a majority of cases there was evidence of an autosomal dominant inheritance. A prominent early finding in all cases was respiratory muscle weakness, and in many of these an acute respiratory incapacity was the reason for the first neurological examination. Neck flexor and sometimes foot extensor weakness were other early symptoms. The clinical picture seems to be at variance with that of the more well known hereditary myopathies. Electrophysiological analysis confirmed a myopathy and serum muscle enzyme concentrations were normal or slightly elevated. Muscle biopsy findings revealed myofibrillar changes which, at the light microscopy level, included plaques that stained strongly with rhodamine-conjugated phalloidin, a specific marker for F-actin. At the ultrastructural level, these plaques were observed to be composed of moderately dense, thin filaments and were related to splitting of Z-discs or formed extensions from Z-discs. We believe that the muscle biopsy changes revealed by cytochemical and ultrastructural observations indicate defective myofibrillogenesis, and the possibility of defective actin polymerization is discussed. A conclusive answer requires further immunocytochemical and immunoelectrophoretic studies and possibly the application of molecular genetics.