Associated Papers
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
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
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