Fig. 1 | Journal of Human Genetics

Fig. 1

From: Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency

Fig. 1

Segregation analysis, sanger sequence and MRI manifestation. a MRI image of proband. The arrow indicated the patchy, spot-like, long T1 and T2 signal shadows symmetrically in cerebral peduncles corticospinal tract. The triangle indicated the flakes T2WI in the cerebral bridge. b Segregation analysis of affected individual. Rectangles indicate males, circles female, and solid circle represents affected individual. The proband was pointed out by arrow. c Sanger sequence of the affected family. The arrows indicate mutation sites

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