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.
© 2020 Korean Society of Medical Genetics and Genomics
