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BRIEF COMMUNICATIONS: M. Auer–Grumbach, S. Strasser–Fuchs, T. Robl, C. Windpassinger, and K. Wagner Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene Neurology 2003; 61: 1435-1437 [Abstract] [Full text] [PDF]

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Reply to Kamholz et al

Michaela Auer-Grumbach, , Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K   (29 December 2003)

Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene

John Kamholz, Michael E. Shy   (29 December 2003)

Reply to Kamholz et al 29 December 2003
Michaela Auer-Grumbach, Institute of Medical Biology and Human Genetics Harrachgasse 21/8, A-8010 Graz, Austria, , Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K Send Correspondence to journal: Re: Reply to Kamholz et al auer-grumbach{at}aon.at Michaela Auer-Grumbach, et al.	The designations of one of the mutations reported in this paper was not correct. The N60H mutation should be designated D60H. The authors thank John Kamholz and Michael Shy (Wayne State University School of Medicine, Detroit) for alerting us to this error. Note: A correction will also be printed in a subsequent issue of Neurology
Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene 29 December 2003
John Kamholz, Wayne State University School of Medicine Elliman Building, 421 E. Canfield, Detroit, MI 48201, Michael E. Shy Send Correspondence to journal: Re: Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene j.kamholz{at}wayne.edu John Kamholz, et al.	Auer-Grumbach et al recently described two new myelin protein zero (MPZ) mutations both of which cause a predominantly axonal neuropathy: N60H, and I62M. [1] These data are important, since they further our understanding of how changes in MPZ, a protein localized to compact myelin, can cause predominantly axonal dysfunction without overt demyelination. However, inspection of the amino acid sequence of MPZ demonstrates that amino acid 60 of MPZ is not an asparagine (N), but an aspartic acid (D). Substitution of the appropriate nucleotide change, G178C, into the cDNA sequence encoding MPZ and subsequent translation of this sequence into protein also shows a D to H change at amino acid 60. The two novel MPZ mutations reported in this paper causing this CMT2-like neuropathy are thus D60H and I62M. References 1. Auer–Grumbach M, Strasser–Fuchs S, Robl T, Windpassinger C, Wagner K. Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene Neurology 2003; 61: 1435-1437.