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 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.
Ionasescu
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VV
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
Searby
C C
CC
Ionasescu
R
R
Reisin
R
R
Ruggieri
V
V
Arberas
C
C
D000328:Adult; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction
D009185:Myelin Proteins; C073687:PMP22 protein, human