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首页> 外文期刊>Muscle and Nerve >I-Z-I complexes in congenital myopathy.
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I-Z-I complexes in congenital myopathy.

机译:I-Z-I复合物在先天性肌病中。

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摘要

A 3-month-old boy with hypotonia at birth succumbed to a congenital myopathy. The major finding in his muscle biopsy corresponded to I-Z-I complexes described previously in embryonic skeletal muscle. A few previous myopathy cases have described findings suggestive of I-Z-I-like complexes. A mutation affecting mononuclear myoblasts or early myotubes was suspected, although an acquired lesion could not be ruled out. The findings may also have been altered by secondary events in this unusual case.
机译:一个3个月大的男孩在出生时患有肌张力低下,死于先天性肌病。他的肌肉活检的主要发现与先前在胚胎骨骼肌中描述的I-Z-I复合物相对应。先前的一些肌病病例描述了暗示I-Z-I样复合物的发现。尽管不能排除获得性病变,但仍怀疑有影响单核成肌细胞或早期肌管的突变。在这种不寻常的情况下,发现还可能因次要事件而改变。

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