. 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.