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一名肌张力减退和肌肉无力儿童“肌粒”的光镜和电镜研究

LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS.

作者信息

CONEN P E, MURPHY E G, DONOHUE W L

出版信息

Can Med Assoc J. 1963 Nov 9;89(19):983-6.

PMID:14076166
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1921896/
Abstract

Examination by light and electron microscopy of more than 100 muscle biopsies revealed one very unusual case. A 4-year-old boy with non-progressive muscle weakness and hypotonia was found to have small particles, termed "myogranules", in many muscle fibres from two gastrocnemius biopsies. Paraffin sections and thin sections of plastic-embedded muscle showed that the rod-shaped myogranules measured between 0.1 and 5 microns in length, and were usually orientated in the long axis of the fibre. Normal cross-striations could not be seen in areas occupied by myogranules, although adjacent parts of the same fibre were normal. Electron micrographs showed myofilaments running through the myogranules and a periodicity similar to sections of recrystallized muscle protein paramyosin. It is possible that this child has a disturbance of muscle proteins.

摘要

对100多份肌肉活检样本进行光学显微镜和电子显微镜检查后,发现了一个非常特殊的病例。一名患有非进行性肌无力和肌张力减退的4岁男孩,在取自双侧腓肠肌的活检样本中的许多肌纤维中发现了被称为“肌颗粒”的小颗粒。石蜡切片和塑料包埋肌肉的薄片显示,杆状肌颗粒长度在0.1至5微米之间,通常沿肌纤维的长轴排列。在肌颗粒占据的区域看不到正常的横纹,尽管同一肌纤维的相邻部分是正常的。电子显微镜照片显示肌丝贯穿肌颗粒,其周期性与重结晶肌肉蛋白副肌球蛋白切片相似。这个孩子有可能存在肌肉蛋白紊乱的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/022fa8c04a91/canmedaj01021-0027-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/5ef7cd04dafe/canmedaj01021-0025-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/69ffd1676d94/canmedaj01021-0026-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/c08a3e2c80d8/canmedaj01021-0026-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/022fa8c04a91/canmedaj01021-0027-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/5ef7cd04dafe/canmedaj01021-0025-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/69ffd1676d94/canmedaj01021-0026-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/c08a3e2c80d8/canmedaj01021-0026-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85f4/1921896/022fa8c04a91/canmedaj01021-0027-a.jpg

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J Child Neurol. 2022 Jun;37(7):652-663. doi: 10.1177/08830738221096316. Epub 2022 Jun 7.
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Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.肌联蛋白杆状肌病在一个复合杂合子小鼠模型中被重现,该模型同时存在肌联蛋白中的错义突变和无义突变。
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