Four Novel Point Mutations In The Pmp22 Gene With Phenotypes Of Hnpp And Dejerine-Sottas Neuropathy
MUSCLE & NERVE(2011)
摘要
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 44: 819-822, 2011
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关键词
Charcot-Marie-Tooth neuropathy, CMT1A, Dejerine-Sottas neuropathy, hereditary neuropathy with liability to pressure palsies, PMP22 gene
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