Espir M L, Matthews W B
J Neurol Neurosurg Psychiatry. 1973 Dec;36(6):1041-5. doi: 10.1136/jnnp.36.6.1041.
A familial myopathy affecting a man, his three daughters, and one of his brothers is reported. The quadriceps muscle was predominantly involved, with aching pain as an early feature, and later prominent areas of hypertrophy projecting from patches of atrophy gave the quadriceps a most striking and unusual appearance. Presentation was in adult life, and the course was relatively benign, pelvic girdle and hand muscles becoming involved later. The evidence suggests a hereditary selective muscular dystrophy rather than polymyositis, although a hereditary form of spinal muscular atrophy could not be excluded entirely.
报告了一例家族性肌病，累及一名男性、他的三个女儿以及他的一个兄弟。股四头肌受累为主，早期表现为酸痛，后期萎缩部位出现突出的肥大区域，使股四头肌呈现出极为显著且异常的外观。发病于成年期，病程相对良性，骨盆带肌和手部肌肉随后也受累。证据表明这是一种遗传性选择性肌营养不良，而非多发性肌炎，尽管不能完全排除遗传性脊髓性肌萎缩的可能性。
