Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Abstract Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management. Our objective was to find novel pathoge...

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Hlavní autoři:	Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-07-01
Edice:	Genome Medicine
Témata:	Congenital myopathy Myopathy Exome sequencing Genetic diagnosis Genetic heterogeneity Phenotypic heterogeneity
On-line přístup:	https://doi.org/10.1186/s13073-024-01353-0
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