Distal myopathy due to TCAP variants in four unrelated Chinese patients
Xiaoqing Lv, Fei Gao, Tingjun Dai, Dandan Zhao, Wei Jiang, Hongzhi Geng, Fuchen Liu, Pengfei Lin, Chuanzhu Yan
Topics & Concepts
Frameshift mutationMyopathyLimb-girdle muscular dystrophyMuscular dystrophyGeneticsNonsense mutationProximal muscle weaknessMedicineMuscle biopsyMuscle disorderPathologyHuman geneticsMutationBiologyInternal medicineGeneBiopsyMissense mutationMuscle Physiology and DisordersGenetic Neurodegenerative DiseasesCardiomyopathy and Myosin Studies