CAJ | 학술논문

中央轴空病是一种以静止性或缓慢进展性的近端肌肉无力为主要临床表现的先天性肌病.特征性病理改变为磷酸化酶和氧化酶染色时,肌纤维中央出现轴空样结构.该病最常见的遗传方式为常染色体显性遗传.目前已发现的致病基因为骨骼肌阿诺碱受体基因.该文就中央轴空病的分子遗传学研究进展及其与临床表型的关系进行综述.
중앙축공병시일충이정지성혹완만진전성적근단기육무력위주요림상표현적선천성기병.특정성병리개변위린산화매화양화매염색시,기섬유중앙출현축공양결구.해병최상견적유전방식위상염색체현성유전.목전이발현적치병기인위골격기아낙감수체기인.해문취중앙축공병적분자유전학연구진전급기여림상표형적관계진행종술.
Central core disease (CCD) is a dominantly inherited congenital myopathy,manifesting as static or slowly progressive weakness ofproximal muscles.Histological characteristics on muscle biopsy are the well defined areas devoid of oxidative enzyme stains.Ryanodine receptor 1 gene mutations are associated with CCD.Great progress has been made in recent years about the RYR1 gene mutaion and the clinical feature of CCD.Genotypic and Phenotypic variations of RYR1 related CCD are reviewed.