Goebel H H, Muller J, Gillen H W, Merritt A D
Muscle Nerve. 1978 Jan-Feb;1(1):14-26. doi: 10.1002/mus.880010104.
A slowly progressive autosomal dominant neuromuscular disease--termed spheroid body myopathy--is described in four successive generations and documented by muscle biopsies in five patients of two generations. With an onset in adolescence, the disease proceeds to some motor incapacitation, but life span is apparently not shortened. The salient morphologic feature is the presence of spheroid bodies, chiefly occurring in type 1 myofibers. Ultrastructurally, these spheroid bodies are composed of tiny filaments but are devoid of organelles; in some cases they resemble cytoplasmic bodies. "Smearing in the 1-band" is a frequent and early finding. At a later age, signs of denervation are also present, both clinically and in muscle biopsies. The clinical and morphologic features justify the designation of this neuromuscular condition as a distinct entity.
一种缓慢进展的常染色体显性神经肌肉疾病——称为球状小体肌病——在连续四代人中被描述，并通过对两代五名患者的肌肉活检得到证实。该疾病于青春期发病，进展至一定程度的运动功能丧失，但寿命显然未缩短。显著的形态学特征是球状小体的存在，主要出现在1型肌纤维中。超微结构上，这些球状小体由微小细丝组成，但缺乏细胞器；在某些情况下，它们类似于细胞质小体。“1带模糊”是常见的早期表现。在较晚年龄，临床和肌肉活检中也出现失神经支配的迹象。临床和形态学特征证明将这种神经肌肉疾病指定为一种独特的疾病实体是合理的。
