A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome
✍ Scribed by S. Zubair; N. R. Holland; B. Beson; J. T. Parke; C. I. Prodan
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 149 KB
- Volume
- 255
- Category
- Article
- ISSN
- 0340-5354
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## Abstract We report four novel point mutations in the __PMP22__ gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our fi
## Abstract Introduction: Point mutations in the peripheral myelin protein 22 (__PMP22__) gene rarely cause the hereditary neuropathies Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. Meth