Van Haute L et al. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 Feb 23;14(1):1009. PMID: 36823193.
Polavarapu K et al. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024 Jan 4;147(1):281-296. PMID: 37721175.
Minczuk M et al. TEFM (c17orf42) is necessary for transcription of human mtDNA. Nucleic Acids Res. 2011 May;39(10):4284-99. PMID: 21278163.
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