Related Experiment Video
Updated: Aug 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral
V V Ionasescu1, C C Searby, R Ionasescu
1Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
Abstract:
A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15-25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation.
More Related Videos
Related Concept Videos
Mutations
Point and Frameshift Mutations
Diabetic Neuropathy
Parkinson Disease ll: Pathophysiology

