Associated Papers
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT et al.
Clinical Genetics, 2024
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
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
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G et al.
American Journal of Human Genetics, 2013
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