Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review
LI Fan, YU Meng, XIE Zhi-ying, WANG Qing-qing, LIU Jing, ZHANG Wei, Lü He, YUAN Yun, WANG Zhao-xia
Chinese Journal of Contemporary Neurology and Neurosurgery . 2021, (3): 204 -211 .  DOI: 10.3969/j.issn.1672-6731.2021.03.013