2Q型肢带型肌营养不良症的研究进展

Research advances in limb-girdle muscular dystrophy type 2Q

肢带型肌营养不良症(LGMD)包括一组肌无力主要呈近端分布的肌营养不良,目前已确定一些与此疾病相关的基因。2Q型肢带型肌营养不良症(LGMD2Q)是肢带型肌营养不良症中的一个亚型,与PLEC基因突变有关。PLEC基因突变表型主要包括大疱性表皮松解症伴迟发型肌营养不良和大疱性表皮松解症伴其他病变,而无皮肤病变的LGMD2Q表型目前报道罕见。该文通过对LGMD2Q的致病基因PLEC及临床表现进行综述,以加深对LGMD2Q的致病基因和表型的认识。

Limb-girdle muscular dystrophy(LGMD)is a group of muscular dystrophies with predominantly proximal muscular weakness,and some genes associated with this disease have been identified at present.LGMD type 2Q(LGMD2Q)is a subtype of LGMD and is associated with PLEC gene mutation.Major phenotypes of PLEC gene mutation include epidermolysis bullosa with late-onset muscular dystrophy and epidermolysis bullosa with other lesions.LGMD2Q without skin lesions is rarely reported.This article reviews the pathogenic gene PLEC and clinical manifestations of LGMD2Q,so as to deepen the understanding of the pathogenic gene and phenotype of LGMD2Q.