Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy
Muscle & Nerve(2011)
摘要
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 findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP. Muscle Nerve, 2011
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关键词
novel point mutations,hnpp,dejerine–sottas
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