| 1 | CMT3A, MPZ
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| Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
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| Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).
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| Brain 138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.
2015
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| 2 | 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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| 3 | CMT3A, MPZ
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| Congenital hypomyelination due to myelin protein zero Q215X mutation.
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| Mandich P, et al.
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| Ann Neurol 45(5):676-8. 1999
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| 4 | CMTDID, CMT1B, CMT3A, MPZ
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| Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
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| Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.
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| J Neurol Neurosurg Psychiatry 67(2):174-9. 1999
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| 5 | CMT1B, CMT3A, HNPP, MPZ
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| Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
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| Warner LE, et al.
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| Neuron 17 : 451-460. 1996
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