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Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
J Child Neurol. 2022 Jun;37(7):652-663. doi: 10.1177/08830738221096316. Epub 2022 Jun 7.
J Child Neurol. 2022.
PMID: 36960434
Free PMC article.
Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. ...
Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. ...
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Buchignani B, Marinella G, Pasquariello R, Sgherri G, Frosini S, Santorelli FM, Orsini A, Battini R, Astrea G.
Buchignani B, et al.
Genes (Basel). 2024 Feb 5;15(2):208. doi: 10.3390/genes15020208.
Genes (Basel). 2024.
PMID: 38397198
Free PMC article.
Review.
BACKGROUND: Mutations in the KLHL40 gene are a common cause of severe or even lethal nemaline myopathy. Some cases with mild forms have been described, although the cases are still anecdotal. ...
BACKGROUND: Mutations in the KLHL40 gene are a common cause of severe or even lethal nemaline myopathy. Some cases with mild f …
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