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Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

✍ Scribed by Victor V. Ionasescu; Charles C. Searby; Rebecca Ionasescu; Ricardo Reisin; Victor Ruggieri; Claudia Arberas

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 82 KB
Volume: 20
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199710)20:10<1308::aid-mus14>3.0.co;2-z

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✦ Synopsis

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.

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