Williams L L
Neurology. 1979 Nov;29(11):1492-8. doi: 10.1212/wnl.29.11.1492.
Significant differences were found in pyruvate oxidation of disrupted skin fibroblasts from patients with Charcot-Marie-Tooth disease (CMT) or neuromuscular disease controls and normal controls, but there was a similar oxidative defect in both disease groups. "Heritable heterogeneity in situ" and additional enzyme faults may explain the normal activity of pyruvate dehydrogenase in some explants, and the lack of correlation between enzyme activity and CMT symptoms. Since experimental, histochemical, and microscopic studies support the concept of localized hypoxia in perineural or neural cells in CMT, the peripheral location of the defect suggests an inherited susceptibility to environmental influences in these cells.
在夏科-马里-图思病（CMT）患者或神经肌肉疾病对照组以及正常对照组的破损皮肤成纤维细胞的丙酮酸氧化方面发现了显著差异，但两个疾病组存在相似的氧化缺陷。“原位遗传异质性”和其他酶缺陷可能解释了某些外植体中丙酮酸脱氢酶的正常活性，以及酶活性与CMT症状之间缺乏相关性的原因。由于实验、组织化学和显微镜研究支持CMT中神经周围或神经细胞局部缺氧的概念，缺陷的外周位置表明这些细胞对环境影响具有遗传易感性。
