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.