Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
✍ Scribed by Roa, Benjamin B.; Dyck, Peter J.; Marks, Harold G.; Chance, Phillip F.; Lupski, James R.
- Book ID
- 109918548
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 577 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1061-4036
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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