| 1 | CMT1B, CMT2I, CMT2J, CMT3A, MPZ
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| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
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| Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E.
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| Eur J Hum Genet 17(9):1129-34. Epub 2009 Mar 18.PMID: 19293842 2009
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| 2 | CMT2I, MPZ
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| Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
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| Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.
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| Neurology 61(10):1435-7. 2003
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| 3 | CMT1A, CMT2I, HNPP, MPZ
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| Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
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| Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.
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| Ann Neurol 51(2):190-201. 2002
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