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Fig. 2 | BMC Musculoskeletal Disorders

Fig. 2

From: Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

Fig. 2

Molecular genetic investigation and functional consequence of the m.12,294G > A mutation. a Sanger sequencing electropherograms of MT-TL2 from muscle (top panel) and buccal mucosa (bottom panel) encompassing the heteroplasmic m.12,294G > A mutation. The arrow in the upper panel marks the mutation. The mutation is not identified in the bottom panel and was likewise not detected in blood and urinary sediment. b Phylogenetic conservation of the anticodon stem and in between the anticodon loop of the mt-tRNA Leucine (CUN) sequence showing the high preservation of the affected base-pair throughout species. c Schematic representation of the mt-tRNA Leucine (CUN) cloverleaf structure showing the mutation in the anticodon stem and the affected G-C base-pair

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