Associated Papers
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
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
Mansur A et al.
Elife, 2023
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
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
Lee HH et al.
Journal of Neuropathology and Experimental Neurology, 2019
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Garg A et al.
The Journal of Clinical Investigation, 2014
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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