Amato Anthony A, Brown Robert H
Department of Neurology, Neuromuscular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115-6110, USA.
Handb Clin Neurol. 2011;101:111-8. doi: 10.1016/B978-0-08-045031-5.00007-4.
Dysferlin is a sarcolemmal protein that plays an important role in patching defects in skeletal membrane by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene can lead to a variety of clinical phenotypes. Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their teens or early twenties, but can present with proximal greater than distal weakness similar to other limb-girdle muscular dystrophies (LGMD2B), with anterior tibial weakness, an axial myopathy (e.g., rigid spine syndrome or hyperkyphosis resembling bent spine syndrome), or any combination of the above. Muscle biopsies may be quite inflammatory, often resulting in a misdiagnosis as polymyositis. Unfortunately, there are no medical therapies available at this time.
dysferlin是一种肌膜蛋白，通过调节囊泡与肌膜的融合，在修复骨骼肌膜缺陷中发挥重要作用。dysferlin基因突变可导致多种临床表型。受影响的个体通常在十几岁或二十出头时就出现小腿后侧肌肉早期受累（宫下肌病），但也可能出现近端肌无力大于远端，类似于其他肢带型肌营养不良症（LGMD2B），伴有胫前肌无力、轴索性肌病（如僵硬脊柱综合征或类似弯脊柱综合征的脊柱后凸），或上述情况的任何组合。肌肉活检可能有相当程度的炎症，常导致误诊为多发性肌炎。不幸的是，目前尚无可用的药物治疗方法。
