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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Figure 1

Pedigree, sequencing chromatograms and conservation in the FC307 family with compound heterozygous PLEKHG5 mutations. (A) Pedigree. Open symbols indicate unaffected individuals and the filled symbol indicates the affected individual. Half-filled symbols indicate carriers possessing one mutant allele. The arrow indicates the proband. Genotypes of both PLEKHG5 mutations are indicated at below each examined individual. (B) Sequencing chromatograms. Vertical arrows indicate the mutation site. (C) Conservation analysis of amino acid sequences. The analysis was conducted using MEGA5 version 5.05 software. Both mutation sites were well conserved across species.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172