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Severe phenotype with cis-acting heterozygous PMP22 mutations

✍ Scribed by D Niedrist; F Joncourt; G Mátyás; A Müller

Book ID: 110888724
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 83 KB
Volume: 75
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2008.01120.x

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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