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. 2009 Mar 18;17(9):1129–1134. doi: 10.1038/ejhg.2009.37

Table 1. MPZ mutations in patients with peripheral sensory–motor neuropathy.

cDNA change Protein change Domain Patient phenotype Age at onset Inheritance Reference
c.152C>T p.Ser51Phe ECD CMT2 48 AD CMTMutations/db
c.181G>A p.Asp61Asn ECD CMT1 1 Isolated Bellone et al16
c.233C>T p.Ser78Leu ECD CMT1 >40 AD Nelis et al14
c.292C>T p.Arg98Cys ECD DSS 1 Sporadic CMTMutations/db
c.293G>A p.Arg98His ECD CMT1 <10 AD CMTMutations/db
c.306delA p.Val102fs ECD CMT2 40 AD CMTMutations/db
c.327T>A p.Asp109Glu ECD CMT2 60 AD Santoro et al17
c.332C>G p.Ser111Cys ECD CMT1 <10 AD This report
c.370A>G p.Thr124Ala ECD CMT2 39 AD This report
c.371C>T p.Thr124Met ECD CMT2 38; 46; 54 AD CMTMutations/db
c.432_433insT p.Tyr145fs ECD CMT2 40 Isolated This report
c.643C>T p.Gln215X ICD CH 1 Sporadic CMTMutations/db
c.699_702delTGAG p.Ser233fs ICD CMT1 <10 AD CMTMutations/db

Abbreviations: AD, autosomal dominant; ECD, extracellular domain; ICD, intracellular domain.

Isolated: no family history, parents not examined; Sporadic: no family history, parents examined and negative for the specific mutation; CMTMutations/db: http://www.molgen.ua.ac.be/CMTMutations.