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pro vyhledávání: '"Natalie B. L. Tan"'
Autor:
Ion J. Campeanu, Dean Phelan, Adriana P. Rebelo, Alexander J. Abrams, Elena Buglo, Stephan Züchner, Zornitza Stark, Natalie B. L. Tan, Andrew J. Kornberg, Flavia Fontanesi
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a patient with optic atrophy, peripheral neuropathy, ataxia, but not cerebellar atrophy, who is on the mildest end of the phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df0182ddeaff4d7da1edd0b4554148b1
https://europepmc.org/articles/PMC6240357/
https://europepmc.org/articles/PMC6240357/
