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A HOMOZYGOUS NDUFS6 VARIANT ASSOCIATED WITH NEUROPATHY, OPTIC ATROPHY AND PROTEIN CHANGES

Andrea Gangfuss,Philipp Rating,Tomas Ferreira,Andreas Hentschel,Adela Della Marina,Heike Koelbel,Albert Sickmann,Angela Abicht,Florian Kraft,Tobias Ruck,Johann Bohm,Anne Schaenzer,Ulrike Schara-Schmidt,Teresa Neuhann,Rita Horvath,Andreas Roos

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2024）

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Key words
Charcot-Marie-Tooth,axonal neuropathy,NDUFS6,white blood cell proteomics
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