Associated Papers
A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.
Sönmez B et al.
Molecular Syndromology, 2025
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Buchignani B et al.
Genes, 2024
38397198 (PubMed )
Supplement: genes-15-00208-s001.zip › genes-2850554-supplementary.pdf
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.
Skrypnyk C et al.
Frontiers in Genetics, 2023
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J et al.
International Journal of Molecular Sciences, 2022
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Yuan H et al.
Orphanet Journal of Rare Diseases, 2022
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Yi S et al.
Molecular Genetics & Genomic Medicine, 2021
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM et al.
Neuromuscular Disorders : Nmd, 2016
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