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家族性指纹体肌病

Familial fingerprint body myopathy.

作者信息

Fardeau M, Tomé F M, Derambure S

出版信息

Arch Neurol. 1976 Oct;33(10):724-5. doi: 10.1001/archneur.1976.00500100058017.

Abstract

Muscle biopsy specimens from two half brothers with a congenital benign muscle disorder and from their mother, clinically unaffected, were studied by histochemistry and electron microscopy. In the children's biopsy specimens, the ultrastructural examination showed numerous fingerprint bodies located at the periphery of the muscle fibers. The histochemical pattern was different in these two specimens. In the mother's biopsy specimen, while fingerprint bodies were not found, the muscle fibers showed slight but definite changes. Even if the fingerprint bodies by themselves are not specific for a particular muscle disease, their occurrence in two half brothers is a valid argument in favor of the individalization of the fingerprint body myopathy, which has been previously described.

摘要

对两名患有先天性良性肌肉疾病的同父异母兄弟及其临床未受影响的母亲的肌肉活检标本进行了组织化学和电子显微镜研究。在儿童的活检标本中,超微结构检查显示在肌纤维周边有大量指纹体。这两个标本的组织化学模式有所不同。在母亲的活检标本中,虽未发现指纹体,但肌纤维显示出轻微但明确的变化。即使指纹体本身并非特定肌肉疾病所特有,它们出现在两名同父异母兄弟身上,也有力支持了此前已描述的指纹体肌病的个体化诊断。

相似文献

1
Familial fingerprint body myopathy.家族性指纹体肌病
Arch Neurol. 1976 Oct;33(10):724-5. doi: 10.1001/archneur.1976.00500100058017.
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The spectrum of cytoplasmic body myopathy: report of a congenital severe case.
Brain Dev. 1989;11(1):20-5. doi: 10.1016/s0387-7604(89)80004-x.
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Chronic benign congenital myopathy: fingerprint body type.慢性良性先天性肌病:指纹体型。
Can J Neurol Sci. 1974 May;1(2):106-13. doi: 10.1017/s031716710001965x.
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Zebra body myopathy. Clinical, histochemical and ultrastructural studies.
J Neurol Sci. 1975 Apr;24(4):437-46. doi: 10.1016/0022-510x(75)90169-0.

引用本文的文献

1
Fingerprint inclusions in normal fetal muscle.
Acta Neuropathol. 1987;73(2):185-8. doi: 10.1007/BF00693787.
2
Fingerprint inclusions and circular structures in the muscle. Report of a case.
Acta Neuropathol. 1979 Jul 13;47(2):161-2. doi: 10.1007/BF00717042.

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