| 1 | CMT2J, MPZ
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| Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
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| Tokuda N, Noto Y, Kitani-Morii F, Hamano A, Kasai T, Shiga K, Mizuta I, Niwa F, Nakagawa M, Mizuno T.
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| Intern Med 54(15):1919-22. doi: 10.2169/internalmedicine.54.4259. Epub 2015 Aug 1.
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 | CMT2J, MPZ
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| Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
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| Kabzinska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochanski A.
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| Am J Med Genet A 143(18):2196-9. No abstract available. 2007
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| 4 | CMT2J, MPZ
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| An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
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| Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G.
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| J Neurol Neurosurg Psychiatry 69(6):806-11. 2000
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