Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene
Corresponding Author
Victor V. Ionasescu MD
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USASearch for more papers by this authorCharles C. Searby BS
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Search for more papers by this authorRebecca Ionasescu MD
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Search for more papers by this authorRicardo Reisin MD
Division of Genetics, R. Gutierrez Children's Hospital, Buenos Aires, Argentina
Search for more papers by this authorVictor Ruggieri MD
Division of Genetics, R. Gutierrez Children's Hospital, Buenos Aires, Argentina
Search for more papers by this authorClaudia Arberas MD
Division of Genetics, R. Gutierrez Children's Hospital, Buenos Aires, Argentina
Search for more papers by this authorCorresponding Author
Victor V. Ionasescu MD
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USASearch for more papers by this authorCharles C. Searby BS
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Search for more papers by this authorRebecca Ionasescu MD
Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Search for more papers by this authorRicardo Reisin MD
Division of Genetics, R. Gutierrez Children's Hospital, Buenos Aires, Argentina
Search for more papers by this authorVictor Ruggieri MD
Division of Genetics, R. Gutierrez Children's Hospital, Buenos Aires, Argentina
Search for more papers by this authorClaudia Arberas MD
Division of Genetics, R. Gutierrez Children's Hospital, Buenos Aires, Argentina
Search for more papers by this authorAbstract
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. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20: 1308–1310, 1997
References
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