Biochemical and Biophysical Research Communications
Regular ArticleA Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap Syndrome
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Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain
2021, Journal of PediatricsCitation Excerpt :The patients with MELAS carried the most common mutation m.3243G>A, MT-TL. The girl with MELAS/MERRF overlapping syndrome had the mutation m.7512T>C in MT-TS1, which is associated with this clinical syndrome.25 The mutation m.12264T>C in MT-TS2 has not been described previously; in patient 38, it caused multiorgan disease with severe learning difficulties, autism, epilepsy, myopathy, hearing impairment, cardiomyopathy, and diabetes mellitus.14
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2017, MitochondrionCitation Excerpt :Thereafter, no more cases with FASTKD2 mutations have been reported. Multi-organ involvement and overlapping symptoms make an exact diagnosis of mitochondrial disorders difficult (Nakamura et al., 1995; Zeviani et al., 1993). Thus, molecular testing to identify the underlying cause is now an important diagnostic tool for patients with mitochondrial disorders.
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