Additional file 1 of Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Additional file 1: Table S1. Clinical, histological and pathogenic variants for probands from 123 families with signs of congenital myopathy. Variants were classified according to the ACMG standards and guidelines [18]. Genes are listed in alphabetical order. -: data not available, F: female, M: male, LL: lower limbs, UL: upper limbs, N: normal, CFTD: congenital fiber type disproportion, CNM: centronuclear myopathy, TAM: tubular aggregate myopathy, SD: splice donor. Homozygous pathogenic variants are shown in bold. 1The probands of families 8 and 49 are third-degree relatives.

附加文件1：表S1。纳入123个表现出先天性肌病症状的家系先证者的临床、组织学及致病变异信息。所有变异依据美国医学遗传学与基因组学学会（ACMG）标准与指南[18]进行分类。基因按字母顺序排列。“-”表示数据不可用，F代表女性，M代表男性，LL代表下肢，UL代表上肢，N代表正常，CFTD为先天性纤维型不均一症，CNM为中央核肌病，TAM为管状聚集肌病，SD为剪接供体位点。纯合致病变异以粗体显示。1 家系8与家系49的先证者为三级亲属。