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
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad I et al.
Journal of Human Genetics, 2023
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Vasli N et al.
Brain : a Journal of Neurology, 2017
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