Nonaka I, Nakamura Y, Tojo M, Sugita H, Ishikawa T, Awaya A, Sugiyama N
Neuropediatrics. 1983 Nov;14(4):237-41. doi: 10.1055/s-2008-1059586.
Three patients including a father and his daughter as well as a sporadic case who had a history of delayed developmental milestones showed symptoms of generalized muscle weakness predominantly in the neck flexors, high-arched palate, slender stature, myopathic face and nasal tone vocalisation. Histological and histochemical examinations on the biopsied muscles demonstrated minimal nonspecific changes; mild variation in fiber size, slight abnormality in fiber type distribution and an increased number of undifferentiated type 2C fibers. The abnormal muscle pathology was assumed to have resulted from delayed muscle fiber growth and differentiation due to a probable defective neural influence upon the developing muscles.
三名患者，包括一名父亲和他的女儿以及一名有发育里程碑延迟病史的散发病例，表现出以颈部屈肌为主的全身肌肉无力症状、高拱腭、身材细长、肌病面容和鼻音发声。对活检肌肉进行的组织学和组织化学检查显示出最小的非特异性变化；纤维大小轻度变化、纤维类型分布略有异常以及未分化的2C型纤维数量增加。异常的肌肉病理被认为是由于发育中的肌肉可能受到神经影响缺陷导致肌肉纤维生长和分化延迟所致。
