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Henry Skocy

affiliation not provided to SSRN

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Tango2 Deficiency Disorder in a 61-Year-Old Male with Episodic Weakness, Rhabdomyolysis, Myotonia, and a Novel Missense Variant

Number of pages: 27 Posted: 15 May 2025
Henry Skocy, Amber L. McFerren, Daniel Cairns, H. Mark Kenney, Eran Tallis, Amit S. Dhamoon, Ellie Garbade and Samuel J. Mackenzie
affiliation not provided to SSRN, University of Rochester Medical Center, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and affiliation not provided to SSRN
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Abstract:

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TANGO2, Rhabdomyolysis, Neurometabolic, mitochondrial disease, muscle, Genotype-Phenotype Correlation