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Neurol Genet. 2016 Jun 23;2(4):e82. doi: 10.1212/NXG.0000000000000082. eCollection 2016 Aug.

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

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Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience (S.A.H., E.L.B., A.I.P., M.C.R., S.A., G.F., Y.S.N., D.M.T., G.S.G., R.W.T.), The Medical School, Institute of Genetic Medicine (R.H.), Newcastle University; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; Department of Neurology (M.R.R.), King's College Hospital NHS Foundation Trust, London; Departments of Neurology and Neuropathology (O.O., N.B.), Cork University Hospital, Ireland; and The Walton Centre for Neurology and Neurosurgery (C.F.D.), Liverpool, UK.


Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common mt-tRNA mutations, such as the m.3243A>G mutation, exist, the majority are rare and have been reported in only a small number of cases.(3) The MT-TP gene, encoding mt-tRNA(Pro), is one of the less polymorphic mt-tRNA genes, and only 5 MT-TP mutations have been reported as a cause of mitochondrial muscle disease to date (table e-1 at, P6-10). We report 5 patients with myopathic phenotypes, each harboring different pathogenic mutations in the MT-TP gene, highlighting the importance of MT-TP mutations as a cause of mitochondrial muscle disease and the requirement to study clinically relevant tissue.

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