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 enlargeme...

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Bibliographic Details
Published in:Muscle & nerve 1997-10, Vol.20 (10), p.1308-1310
Main Authors: Ionasescu, Victor V., Searby, Charles C., Ionasescu, Rebecca, Reisin, Ricardo, Ruggieri, Victor, Arberas, Claudia
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Biological and medical sciences
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth neuropathy
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Frameshift Mutation
Gene Deletion
Humans
Male
Medical sciences
Myelin Proteins - genetics
Neurology
peripheral myelin protein 22 gene deletion
Polymerase Chain Reaction
Citations: Items that this one cites
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Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/(SICI)1097-4598(199710)20:10<1308::AID-MUS14>3.0.CO;2-Z