Citations for
1CMT2J, MPZ
Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
Tokuda N, Noto Y, Kitani-Morii F, Hamano A, Kasai T, Shiga K, Mizuta I, Niwa F, Nakagawa M, Mizuno T.
Intern Med 54(15):1919-22. doi: 10.2169/internalmedicine.54.4259. Epub 2015 Aug 1. 2015
2CMT1B, CMT2I, CMT2J, CMT3A, MPZ
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E.
Eur J Hum Genet 17(9):1129-34. Epub 2009 Mar 18.PMID: 19293842 2009
3CMT2J, MPZ
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
Kabzinska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochanski A.
Am J Med Genet A 143(18):2196-9. No abstract available. 2007
4CMT2J, MPZ
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).
Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G.
J Neurol Neurosurg Psychiatry 69(6):806-11. 2000