Kishibayashi J, Sunohara N, Saito Y
Rinsho Shinkeigaku. 1997 Jul;37(7):603-10.
We describe a kindred with autosomal dominant myopathy with preferential proximal limb muscle involvement. This disorder is characterized clinically by early adult onset, slow progression, normal life expectancy, weakness and atrophy of proximal limb muscles, especially in the lower limbs. Laboratory examinations showed myopathic changes mixed with neuropathic components on needle electromyography, slight elevation of serum creatine kinase, and absent cardiac involvement. In biopsied muscle findings of two patients, the presence of rimmed vacuoles was the most striking finding to explain muscle degeneration, though a few necrotic fibers were present. The pathologic and clinical findings in the present family are almost similar to those seen in "adult-onset autosomal dominant limb-girdle muscular dystrophy" reported by Chutkow et al.
我们描述了一个患常染色体显性遗传性肌病的家族，该疾病主要累及近端肢体肌肉。这种疾病的临床特征为成年早期发病、进展缓慢、预期寿命正常、近端肢体肌肉无力和萎缩，尤其是下肢。实验室检查显示针极肌电图表现为肌病改变合并神经病变成分，血清肌酸激酶轻度升高，且无心脏受累。在两名患者的肌肉活检结果中，镶边空泡的存在是解释肌肉变性的最显著发现，尽管也存在一些坏死纤维。本家族的病理和临床发现与Chutkow等人报道的“成年发病的常染色体显性遗传性肢带型肌营养不良症”几乎相似。
