Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations

COL6A1基因c.788G>A变异型贝特莱姆肌病的多模式评估：一例遗传、超声和结构-功能不一致相关性的病例报告