DNAJB6基因突变致显性遗传性肌病一家系并文献复习

目的 总结常染色体显性遗传性DNAJB6基因突变所致肌病的临床表型和基因突变特点.方法 回顾分析一家系2例DNAJB6基因突变所致肌病患者的临床表现、实验室、肌肉影像学、神经电生理学、肌肉病理学和基因检测结果,并进行文献复习.结果 先证者主要表现为四肢远近端肌无力,下肢重于上肢、近端重于远端,其父呈姿势异常,上楼需扶持...

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy:a family report and literature review

Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies.Methods We retrospectively reviewed the clinical information,laboratory tests,muscle MRIs,electromyography results,muscle pathology examinations and genetic mutations of 2 patients of DNAJB6 related myopathies from one family and reviewed related published literatures of DNAJB6 related myopathies.Results The proband presented with muscle weakness of both proximal and distal limbs,with lower limbs more serious than upper limbs,and proximal more serious than distal.The father of proband presented with abnormal gait,and he could only climb stairs with assistance.Serum creatine kinase(CK)levels of both patients were normal.Muscle MRIs of both patients showed different degrees of fatty infiltration.Muscle biopsies of both patients showed similar changes with dystrophic features,and some muscle fibers with rimmed vacuoles inside,as well as increased internal nuclei and a few regenerating fibers.Genetic tests proved both patients carried the same DNAJB6 gene variant,c.161A>C(p.Glu54Ala),which was the first report in China's Mainland.The proband was diagnosed as limb?girdle muscular dystrophy D1(LGMD?D1)type,and the father of proband was diagnosed as distal myopathy.This family was considered as autosomal dominant DNAJB6 related myopathy.Referring to literature,heterogeneities exist in DNAJB6 related myopathies,and different clinical phenotypes could be presented in one single family.Conclusions The phenotypes of DNAJB6 related myopathies include limb?girdle muscular dystrophy and distal myopathy.Muscle pathology shows similar changes of rimmed vacuoles and dystrophic features.This reported family further expands the spectrum of phenotypes of DNAJB6 related myopathies.