Fitzsimons R B, Tyer H D
J Neurol Sci. 1980 Apr;46(1):33-48. doi: 10.1016/0022-510x(80)90041-6.
Seven cases from a family with a myopathy categorized as "multicore disease" are presented. The clinical picture is unusual because of the predominant progressive involvement of the axial skeletal muscle, with scoliosis and disproportionate respiratory failure as the major clinical features. The propositus and his cousin have both suffered from scoliosis without limb weakness. There is a possibility that this myopathy may be responsible for some cases regarded as idiopathic scoliosis, especially idiopathic infantile scoliosis. The clinical picture is highly variable, and there are sub-clinical cases. The inheritance pattern is consistent with either autosomal dominant, sex-linked recessive or extra-chromosomally inherited disease. Electron microscopy revealed mitochondrial abnormalities, which may have resulted in the Z-disc pathology.
本文报告了一个患有被归类为“多核病”的肌病家族中的7个病例。临床表现不同寻常，因为主要是轴性骨骼肌进行性受累，脊柱侧弯和不成比例的呼吸衰竭是主要临床特征。先证者及其表弟均患有脊柱侧弯但无肢体无力。这种肌病有可能是一些被视为特发性脊柱侧弯，尤其是特发性婴儿脊柱侧弯病例的病因。临床表现高度可变，存在亚临床病例。遗传模式与常染色体显性遗传、性连锁隐性遗传或染色体外遗传疾病一致。电子显微镜检查发现线粒体异常，这可能导致了Z线病理改变。
