Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

Download original image
Fig. 1. Photos and results of genetic analysis from the proband. (A) Atrophy of lower extremities, intrinsic muscles of hand, and the distal part of feet is evident. (B) A heterozygous variant c.2228G>T (p.Ser743Ile, NM_014874.3) in MFN2 is confirmed by Sanger sequencing in the proband. (C) Serine at the position 743 in mitofusin 2 protein is highly conserved across the species.
Journal of Genetic Medicine 2020;17:89-91
© 2020 Korean Society of Medical Genetics and Genomics