A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.
P-C TsaiY-S TsaiB-W SoongY-H HuangH-T WuY-H ChenK-P LinY-C LiaoYi-Chung LeePublished in: Clinical genetics (2017)
This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy.