M.P.1.15 A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations

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An extensive range of molecular defects have been identified in the human mitochondrial genome (mtDNA), many associated with well-characterised, progressive neurological syndromes. Although point mutations within mitochondrial (mt-) tRNA genes are the commonest mtDNA defect observed, many of their inherent characteristics remain poorly understood. Determinants of clinical heterogeneity and hereditability are two features of mt-tRNA mutations which are clinically important in terms of prognosis and genetic counselling.