CONGENITAL MYOPATHY WITH CYTOPLASMIC BODIES
CONGENITAL MYOPATHY WITH CYTOPLASMIC BODIES
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DOI：
10.1055/s-2008-1059649
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发表时间：
1981-01-01
期刊：
影响因子：
1.4
通讯作者：
LENARD, HG
中科院分区：
文献类型：
--
作者：
GOEBEL, HH;SCHLOON, H;LENARD, HG
从婴儿早期起，一名15岁的女孩就患有一种明显的静止性神经肌肉疾病，主要影响她的近端肌肉，但也不能幸免于她的远端肌肉。她的CPK值反复轻度升高，她的肌电被认为是“肌病”。该家族中没有类似的神经肌肉疾病。股四头肌活检显示I型肌纤维占优势，占96%，I型肌纤维萎缩，肌纤维内有大量胞浆小体，提示该女孩的肌肉疾病表现为“先天性肌病伴胞浆小体”，因为最近报道在其他散发性和遗传性神经肌肉疾病中有胞浆小体。
Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered" myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofiber predominance of 96%, type I myofiber atrophy and numerous cytoplasmic bodies within myofibers suggesting that this girl's muscle disease represented" congenital myopathy with cytoplasmic bodies" as cytoplasmic bodies were recently reported in other sporadic and hereditary neuromuscular disorders of unknown origin.