Higuchi I, Nonaka I, Usuki F, Ishiura S, Sugita H
Acta Neuropathol. 1987;73(1):32-7. doi: 10.1007/BF00695499.
The skeletal muscle of Japanese quails with acid maltase deficiency (AMD) was studied morphologically at various developmental stages, from the 16th embryonal day up to 3 months after hatching. Membrane-bound glycogen particles began to appear in the affected skeletal muscle at the 16th embryonal day. In normal embryonic muscles, a certain amount of free glycogen particles was observed but they were not membrane-bound. Therefore, this is the earliest morphological event in the muscle of Japanese quails with AMD. In muscle at 3 weeks after hatching, the initial focal degeneration of myofibrils was recognizable but it was not associated with autophagic vacuoles. Quails with AMD developed muscle weakness and difficulty in lifting their wings at about 3 months after hatching: then numerous autophagic vacuoles were present. The formation of large autophagic vacuoles followed by fiber loss and fatty replacement seemed to contribute to the progressive muscle weakness. The study of Japanese quail with AMD will greatly facilitate the elucidation of the pathogenetic mechanism and is also a useful model for therapeutic trials in human AMD.
对患有酸性麦芽糖酶缺乏症（AMD）的日本鹌鹑的骨骼肌在从胚胎第16天到孵化后3个月的不同发育阶段进行了形态学研究。在胚胎第16天，膜结合糖原颗粒开始出现在受影响的骨骼肌中。在正常胚胎肌肉中，观察到一定量的游离糖原颗粒，但它们不是膜结合的。因此，这是患有AMD的日本鹌鹑肌肉中最早的形态学事件。在孵化后3周的肌肉中，可识别出肌原纤维最初的局灶性变性，但它与自噬泡无关。患有AMD的鹌鹑在孵化后约3个月出现肌肉无力和举翅困难：此时出现大量自噬泡。大自噬泡的形成随后伴有纤维丢失和脂肪替代似乎导致了进行性肌肉无力。对患有AMD的日本鹌鹑的研究将极大地有助于阐明发病机制，也是人类AMD治疗试验的有用模型。
