Edström L, Wróblewski R, Mair W G
Muscle Nerve. 1982 Oct;5(8):604-13. doi: 10.1002/mus.880050804.
Two patients, a father and his 14-year-old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers. The cytochemical and ultrastructural analysis revealed a spectrum of pathological changes typical of myotubular myopathy. Energy-dispersive electron probe x-ray microanalysis was performed on 6- to 12-microns thick freeze-dried cryosections visualized in the scanning or scanning transmission mode of electron microscopy. We found a high intracellular sodium and chlorine concentration and a low potassium concentration in comparison with control muscles. These changes pointed in the direction similar to results from human fetal muscle. The changes in the intracellular elemental composition may indicate a membrane pump dysfunction, which might be caused by a partial arrest in muscle fiber maturation.
两名患者，一位父亲和他14岁的儿子，患有面肩肱型肌营养不良综合征，肌肉活检结果与肌管性肌病相符。父亲的大多数肌纤维中出现中央核，但他的儿子仅在萎缩的I型纤维中有典型变化。细胞化学和超微结构分析揭示了肌管性肌病典型的一系列病理变化。对在电子显微镜扫描或扫描透射模式下观察到的6至12微米厚的冻干冷冻切片进行能量色散电子探针X射线微分析。我们发现与对照肌肉相比，细胞内钠和氯浓度高而钾浓度低。这些变化与人类胎儿肌肉的结果方向相似。细胞内元素组成的变化可能表明膜泵功能障碍，这可能是由肌纤维成熟的部分停滞引起的。
