Morand P, Bienvenu P, Daumas P L, Kieffer A, Muh J P, Raynaud R
Arch Mal Coeur Vaiss. 1977 Oct;70(10):1097-103.
A case is presented of a familial form of apparently primary cardio-myopathy with findings on investigation and histology which were in favour of a generalised subclinical muscular disorder: a raised serum creatinine phosphokinase, persistent carnosinuria on a vegetarian diet, and under the light microscope several features indicative of a myogenic dystrophic condition on deltoid biopsy. From their clinical features, these original cases may be classified somewhere between primary familial heart disease and the cardiac complications of myopathies. The value of the creatinine phosphokinase isoenzymes and of muscle biopsy in situations such as these is discussed.
本文报告一例家族性原发性心肌病病例，其检查和组织学结果提示存在全身性亚临床肌肉疾病：血清肌酸磷酸激酶升高，素食时持续性肌肽尿，三角肌活检在光学显微镜下有多项特征提示肌源性营养不良状态。根据其临床特征，这些原始病例可能介于原发性家族性心脏病和肌病的心脏并发症之间。本文还讨论了肌酸磷酸激酶同工酶和肌肉活检在这类情况下的价值。
