Bushby K M
Acta Neurol Belg. 2000 Sep;100(3):142-5.
The limb-girdle muscular dystrophies are a highly heterogeneous group of muscle disorders with many different genetic causes now known. Amongst the causes of LGMD, the dysferlin gene stands out as novel for several reasons. It is the first known example of a C2 domain containing protein involved in a muscular dystrophy, mutations in the gene can be involved in a variable phenotype, and a naturally occurring mouse model for dysferlin deficiency has recently been identified. This article reviews the progress made in understanding this form of limb-girdle muscular dystrophy to date.
肢带型肌营养不良症是一组高度异质性的肌肉疾病，目前已知有许多不同的遗传病因。在肢带型肌营养不良症的病因中，dysferlin基因因其几个原因而显得突出。它是已知的第一个与肌营养不良症相关的含C2结构域蛋白的例子，该基因的突变可导致多种不同表型，并且最近已鉴定出一种自然发生的dysferlin缺乏小鼠模型。本文综述了迄今为止在理解这种肢带型肌营养不良症方面所取得的进展。
