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
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
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Gurgel-Giannetti J et al.
Neuromuscular Disorders : Nmd, 2021
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
Zhang G et al.
Bmc Pediatrics, 2021
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.
Almannai M et al.
Circulation. Genomic and Precision Medicine, 2021
Novel SPEG variant cause centronuclear myopathy in China.
Tang J et al.
Journal of Clinical Laboratory Analysis, 2020
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Qualls AE et al.
Muscle & Nerve, 2019
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Lornage X et al.
Journal of Neuromuscular Diseases, 2018
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