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@ahgeditor.bsky.socialSep 7, 2026, 11:52 AM

An Early View: This narrative review integrates #clinical, familial, tissue-specific #heteroplasmy and functional evidence across the MT-TI variant spectrum. The authors sought to clarify the implications for variant interpretation and diagnosis.

đź”— Read here: onlinelibrary.wiley.com/doi/full/10....

Figure. 1 

Overview of the clinical phenotypic spectrum of MT-TI. MT-TI variants can involve the ophthalmological system (including chronic progressive external ophthalmoplegia, ptosis, and diplopia), the auditory system (sensorineural hearing loss), skeletal muscle (proximal muscle weakness, myalgia, muscle atrophy, rhabdomyolysis, and ragged-red fibres), the central nervous system (including MERRF/MERRF-like and Leigh/Leigh-like syndromes, epilepsy, ataxia, and developmental delay), the cardiovascular system (hypertension, hypertrophic or dilated cardiomyopathy, mitochondrial cardiomyopathy, and cardiac arrhythmias), and the urinary system (Gitelman-like syndrome, chronic renal failure, and glomerulosclerosis)
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