Urtizberea J Andoni, Bassez Guillaume, Leturcq France, Nguyen Karine, Krahn Martin, Levy Nicolas
Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France.
Neurol India. 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447.
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). A growing number of clinical variants have recently been described with a much wider range of symptoms and onset. Although rare, dysferlinopathies can account for up to 30% of progressive recessive muscular dystrophies in certain geographical areas, notably in the Middle East and the Indian subcontinent. Dysferlin is a large protein involved in membrane repair and vesicle trafficking and interacts probably with important immunological pathways. New insights in its pathophysiology may result in innovative therapies in the near future.
肌膜蛋白病包括多种神经肌肉疾病，其特征是骨骼肌中缺乏肌膜蛋白，且为常染色体隐性遗传模式。到目前为止，已报道了三种主要表型：宫下肌病（MM）、2B型肢带型肌营养不良（LGMD 2B）和胫前肌起病的远端肌病（DMAT）。最近描述了越来越多的临床变异型，其症状和发病情况范围更广。尽管罕见，但在某些地理区域，尤其是中东和印度次大陆，肌膜蛋白病可占进行性隐性肌营养不良的30%。肌膜蛋白是一种参与膜修复和囊泡运输的大型蛋白质，可能与重要的免疫途径相互作用。对其病理生理学的新见解可能在不久的将来带来创新疗法。
