case_images: PMC9527530_01
case_images: Family pedigree. The Proband's family pedigree demonstrates an autosomal
  dominant inheritance pattern in the genetically confirmed and clinically
  suspected individuals indicated.
case_images: 10.1177_23247096221117801-fig1.jpg
case_images: PMC9527530_01_10.1177_23247096221117801-fig1.jpg
case_images: fig1-23247096221117801
case_images: She reported a family history of presumed CMT neuropathy based on foot drop and intrinsic hand weakness in her maternal grandfather, mother, brother, two daughters, and one granddaughter, although genetic testing or EDX studies had not been performed on extended family members (Figure 1).
case_images: PMC9527530_02
case_images: DNA electropherograms. The clinically likely pathogenic heterozygous
  DNM2 mutation (c.1609 G>A) is demonstrated in
  the Proband (case 1), her brother (case 2), and their clinically
  affected mother. The normal allele is present in their unaffected
  father, indicating maternal dominant gene transmission. HET =
  Heterozygous.
case_images: 10.1177_23247096221117801-fig2.jpg
case_images: PMC9527530_02_10.1177_23247096221117801-fig2.jpg
case_images: fig2-23247096221117801
case_images: Genetic testing identified a heterozygous missense point mutation in exon 15 of the DNM2 gene (c.1609 G>A) on chromosome 19, resulting in substitution of glycine 537 to serine (p.Gly537Ser) in the Proband and her brother (see arrow, Figure 2). Their mother possessed the same heterozygous missense DNM2 point mutation which was absent in their father (Figure 2), supporting our inference that DNM2 (c.1609 G>A) is causative of DI-CMTB in this family cohort.