SEVERE CHARCOT-MARIE-TOOTH NEUROPATHY TYPE 1A WITH 1-BASE PAIR DELETION AND FRAMESHIFT MUTATION IN THE PERIPHERAL MYELIN PROTEIN-22 GENE

A 27-year-old man with negative family history and both parents with n ormal neurological evaluation and motor nerve conduction velocities (M NCVs) showed onset of severe weakness of feet at 4 years of age. Subse quently he developed left equinovarus deformity, thoracic scoliosis, u lnar nerve enlargement, areflexia, distal hypesthesia and slowing of M NCVs for median and ulnar nerves (15-25 m/sec). Molecular genetic stud ies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of t he PMP22 gene associated with frameshift mutation. (C) 1997 John Wiley & Sons, Inc.