Zimprich F, Djamshidian A, Hainfellner J A, Budka H, Zeitlhofer J
Universitätsklinik für Neurologie, Allgemeines Krankenhaus der Stadt Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria.
Muscle Nerve. 2000 Dec;23(12):1876-9. doi: 10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a.
In this study we describe an autosomal dominant distal muscular dystrophy in a small Austrian family. The myopathy started in early adulthood with a slowly progressive weakness of the muscles of the anterior tibial compartment, followed by the long finger extensors and sternocleidomastoids in some family members. Other muscles were spared. Histopathology showed fiber size variation and autophagic vacuoles. This disease pattern is similar to Laing distal myopathy, which has been described previously in only one other family.
在本研究中，我们描述了一个奥地利小家族中的常染色体显性遗传性远端肌营养不良症。该肌病始于成年早期，胫前肌逐渐缓慢进展性无力，部分家族成员随后出现手指长伸肌和胸锁乳突肌无力。其他肌肉未受累。组织病理学显示肌纤维大小不一和自噬空泡。这种疾病模式与莱因远端肌病相似，此前仅在另一个家族中有所描述。
