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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5.
Nat Commun. 2024.
PMID: 38413582
Free PMC article.
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
Giarrana ML, Joset P, Sticht H, Robb S, Steindl K, Rauch A, Klein A.
Giarrana ML, et al.
Muscle Nerve. 2015 Oct;52(4):668-73. doi: 10.1002/mus.24687. Epub 2015 Jun 1.
Muscle Nerve. 2015.
PMID: 25900532
Free article.
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