<scp>TRIT1</scp> defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels-Reference-Cited by-同舟云学术

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

Published:2022-09-21 Issue:6 Volume:45 Page:1039-1047
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Muylle Ewout¹,Jiang Huafang²,Johnsen Christin¹,Byeon Seul Kee³,Ranatunga Wasantha¹,Garapati Kishore³⁴⁵,Zenka Roman M.³,Preston Graeme¹,Pandey Akhilesh³,Kozicz Tamas¹³,Fang Fang²,Morava Eva¹³⁶⁷^ORCID

Affiliation:

1. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

2. Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China

3. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

4. Institute of Bioinformatics, International Technology Park Bangalore Karnataka India

5. Manipal Academy of Higher Education Manipal Karnataka India

6. Department of Medical Genetics University of Pecs Medical School Pecs Hungary

7. Department of Biophysics University of Pecs Medical School Pecs Hungary

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12550

Reference19 articles.

1. Expansion of the phenotype of biallelic variants in TRIT1

2. Cloning of a human tRNA isopentenyl transferase

3. Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

4. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1 ) gene

5. The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation

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