家族性血小板减少症罕见,作者研究了经常染色体显性遗传3代的本病伴肌病3例.例1新生儿期血小板23×10~9/L,BT19分钟,儿童期骨髓巨核细胞减少,多数核分叶少,浆嗜碱.6岁时跑跳困难,近端不对称肌无力,EMG正常,CPK升高,肌活检示弥漫性Ⅱ型纤维萎缩,1/3纤维见裂隙样空泡.例2为其母,剖腹产时因伤口巨大血肿发现血小板25×10~9/L.出血时间延长.骨髓吸取困难,未见产板巨核细胞.4岁时肌无力,上椅登楼困难,CPK Familial thrombocytopenia is rare, the authors studied the autosomal dominant 3 generations of the disease with myopathy in 3 cases.Example 1 neonatal platelet 23 × 10 ~ 9 / L, BT19 minutes, childhood bone marrow megakaryocytes decreased, Most nuclear lobes less, basophilic pulp .6 years old running difficult, proximal asymmetric muscle weakness, normal EMG, CPK increased, muscle biopsy showed diffuse type Ⅱ fiber atrophy, 1/3 fibers see fissure-like vacuoles .Example 2 for its mother, caesarean section due to huge wound hematoma 25 × 10 ~ 9 / L. Hemorrhage was found to be prolonged. Bone marrow dysplasia, no plate megakaryocyte platelets .4-year-old muscle weakness, climbing difficulties on the chair, CPK