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Article

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

Genome medicine - 9 Jul 2024

de Feraudy Yvan, Vandroux Marie, Romero Norma Beatriz, Schneider Raphaël, Saker Safaa, Boland Anne, Deleuze Jean-François, Biancalana Valérie, Böhm Johann, Laporte Jocelyn

Abstract excerpt

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 pathogenic variants and genes associated with congenital myopathies and to decrease diagnostic odysseys and dead-end. METHODS: To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38982518
DOI: 10.1186/s13073-024-01353-0
PMCID: PMC11234750

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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