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https://doi.org/10.1016/j.nmd.2025.105366
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Translate Chat PDFNEWCiteExportShare Journal: Neuromuscular disorders : NMD |  Publication Date: Jun 1, 2025 |
 Citations: 1 |
Affiliation: Charles University, University of Miami
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.
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