Farkas-Bargeton E, Aicardi J, Arsenio-Nunes M L, Wehrle R
J Neurol Sci. 1978 Nov;39(1):17-29. doi: 10.1016/0022-510x(78)90184-3.
Muscle biopsies of hypotonic children have shown delayed maturation of a fetal type of muscle fibers: subsarcolemmal halo devoid of activity for mitochondrial dehydrogenases, type II predominance and in some cases abnormal dispersion of fiber diameter. Fiber subtypes within group II were also abnormal. One case has definite embryonic characteristics with presence of myoblasts. Not a single clinical pattern was present in these patients and a variety of associated disorders were recognized. Some patients had a clinical picture corresponding to congenital benign hypotonia as described by Walton.
低渗性儿童的肌肉活检显示，胎儿型肌纤维成熟延迟：肌膜下晕圈缺乏线粒体脱氢酶活性，II型占优势，在某些情况下纤维直径异常分散。II组内的纤维亚型也不正常。1例具有明确的胚胎特征，有成肌细胞存在。这些患者没有单一的临床模式，且识别出多种相关疾病。一些患者具有与Walton所描述的先天性良性低渗症相符的临床表现。
