Additional file 1 of Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Exome_sequencing_in_undiagnosed_congenital_myopathy_reveals_new_genes_and_refines_genes_phenotypes_correlations/26231151/1
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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.
提供机构：
Biancalana, Valérie; Deleuze, Jean-François; Böhm, Johann; de Feraudy, Yvan; Boland, Anne; Laporte, Jocelyn; Romero, Norma Beatriz; Vandroux, Marie; Schneider, Raphaël; Saker, Safaa
创建时间：
2024-07-10
