<scp>TRIT1</scp> defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

Ewout Muylle(KU Leuven), Éva Morava(Mayo Clinic), Wasantha Ranatunga(Mayo Clinic), Akhilesh Pandey(Johns Hopkins University), Christin Johnsen(University of Washington), Graeme Preston(Mayo Clinic), Kishore Garapati(Manipal Academy of Higher Education), Roman M. Zenka(Mayo Clinic), Tamás Kozicz(Mayo Clinic in Florida), Huafang Jiang(Capital Medical University), Fang Fang(University of Kansas), Seul Kee Byeon(Mayo Clinic)
Journal of Inherited Metabolic Disease
September 1, 2022
10.1002/jimd.12550
Cited by 18

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