Review
Open access
Aug 2026
Decoding the Genetic and Phenotypic Spectrum of MT-TI Mitochondrial Diseases.
D diagnosis requires tissue-informed heteroplasmy assessment integrated with phenotype, maternal family history, and functional evidence, and a staged mechanism involving disturbed transfer RNA processing, structure, stability, or aminoacylation is supported.
En-Chi Yuan, Ning Zhang, Haoyu He et al.
· Annals of Human Genetics · 0 citations