Scrimgeour E M, Mastaglia F L
Am J Med Genet. 1984 Apr;17(4):763-71. doi: 10.1002/ajmg.1320170407.
Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44- and 27-year-old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Melanesians.
在一名来自巴布亚新几内亚海湾省的37岁美拉尼西亚男子身上，观察到30岁时出现远端肢体肌病，随后逐渐发展为进行性上睑下垂、外眼肌麻痹和咽部肌病。该患者44岁和27岁的姐妹分别在35岁和25岁时出现上睑下垂和外眼肌麻痹，且无明显远端肌肉受累或吞咽困难。这个家族似乎可能是常染色体隐性遗传。此前在美拉尼西亚人中尚未报道过这种肌病综合征。
