Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype
✍ Scribed by Taioli, Federica; Bertolasi, Laura; Ajena, Domenico; Ferrarini, Moreno; Cabrini, Ilaria; Crestanello, Alberto; Fabrizi, Gian Maria
- Book ID
- 119855275
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 565 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1085-9489
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## 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