Associated Papers
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
Fujimoto HM et al.
Human Genome Variation, 2023
Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.
Jaouadi H et al.
International Journal of Molecular Sciences, 2022
Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
Espinosa KG et al.
Disease Models & Mechanisms, 2022
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Lornage X et al.
Journal of Neuromuscular Diseases, 2018
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