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中央轴空病。一项相关的遗传学、组织化学、超微结构及生物化学研究。

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

作者信息

Isaacs H, Heffron J J, Badenhorst M

出版信息

J Neurol Neurosurg Psychiatry. 1975 Dec;38(12):1177-86. doi: 10.1136/jnnp.38.12.1177.

DOI:10.1136/jnnp.38.12.1177
PMID:130467
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC492184/
Abstract

Two patients suffering from central core disease are presented. The condition is associated with musculoskeletal abnormalities which have been traced back over five generations. In addition to the typical histochemical findings, electronmicroscopic study has revealed the presence of both structured and non-structured cores in adjacent areas. The calcium uptake by the sarcoplasmic reticulum was reduced to one-third of normal. Phosphorylase activity was normal in the one case and reduced to 63% in the other. Actomyosin Mg2+-activated ATPase activity was decreased, as was the Ca2+-dependent ATPase of the sarcoplasmic reticulum.

摘要

本文报告了两名患有中央轴空病的患者。该病症与肌肉骨骼异常相关，这种异常已追溯到五代以上。除了典型的组织化学发现外，电子显微镜研究显示相邻区域存在有结构和无结构的轴空。肌浆网的钙摄取减少至正常水平的三分之一。一例患者的磷酸化酶活性正常，另一例则降至63%。肌动球蛋白Mg2+激活的ATP酶活性降低，肌浆网的Ca2+依赖性ATP酶活性也降低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/ea05ffbb8e30/jnnpsyc00186-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/00975af944d2/jnnpsyc00186-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/eb91d44fae34/jnnpsyc00186-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/f2dfa50cd755/jnnpsyc00186-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/59b3d2f121b6/jnnpsyc00186-0039-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/ea05ffbb8e30/jnnpsyc00186-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/00975af944d2/jnnpsyc00186-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/eb91d44fae34/jnnpsyc00186-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/f2dfa50cd755/jnnpsyc00186-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/59b3d2f121b6/jnnpsyc00186-0039-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3d0/492184/ea05ffbb8e30/jnnpsyc00186-0040-a.jpg

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Is central core disease with structural core a fetal defect?伴有结构核心的中央轴空病是一种胎儿缺陷吗？
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Oxidative enzymes and phosphorylase in central-core disease of muscle.肌肉中央轴空病中的氧化酶和磷酸化酶
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