Charcot-Marie-Tooth disease subtypes and genetic ... - ResearchGate

Saporta et al: Detecting CMT Subtypes10. Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologicfeatures of CMT2A with mutations in the mitofusin 2 gene.Neurology 2005;65:197–204.11. Kijima K, Numakura C, Izumino H, et al. Mitochondrial GTPasemitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.Hum Genet 2005;116:23–27.12. Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrialGTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathytype 2A. Nat Genet 2004;36:449–451.13. Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunctionand axonal degeneration in Charcot-Marie-Tooth disease type 1A.Brain 2000;123:1516–1527.14. Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Toothdisease type 1A. Neurology 2008;70:378–383.15. Shy ME, Siskind C, Swan ER, et al. CMT1X phenotypes representloss of GJB1 gene function. Neurology 2007;68:849–855.16. Shy ME, Jani A, Krajewski KM, et al. Phenotypic clustering in MPZmutations. Brain 2004;127:371–384.17. Lewis RA, Sumner AJ, Shy ME. Electrophysiological features ofinherited demyelinating neuropathies: a reappraisal in the era ofmolecular diagnosis. Muscle Nerve 2000;23:1472–1487.18. England JD, Gronseth GS, Franklin G, et al. Evaluation of distalsymmetric polyneuropathy: the role of laboratory and genetic testing(an evidence-based review). Muscle Nerve 2009;39:116–125.19. England JD, Gronseth GS, Franklin G, et al. Practice parameter:the evaluation of distal symmetric polyneuropathy: the role of laboratoryand genetic testing (an evidence-based review). PM R2009;1:5–13.20. Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimationof the mutation frequencies in Charcot-Marie-Tooth diseasetype 1 and hereditary neuropathy with liability to pressure palsies:a European collaborative study. Eur J Hum Genet 1996;4:25–33.21. Dubourg O, Azzedine H, Verny C, et al. Autosomal-recessiveforms of demyelinating Charcot-Marie-Tooth disease. NeuromolecularMed 2006;8:75–86.22. Li J, Krajewski K, Lewis RA, Shy ME. Loss-of-function phenotypeof hereditary neuropathy with liability to pressure palsies. MuscleNerve 2004;29:205–210.23. Li J, Krajewski K, Shy ME, Lewis RA. Hereditary neuropathy withliability to pressure palsy: the electrophysiology fits the name.Neurology 2002;58:1769–1773.24. Krajewski KM, Shy ME. Genetic testing in neuromuscular disease.Neurol Clin 2004;22:481–508, v.25. American Society of Human Genetics Board of Directors, DirectorsACoMGBo. ASHG/ACMG REPORT Points to Consider: Ethical,Legal, and Psychosocial Implications of Genetic Testing inChildren and Adolescents. Am J Hum Genet 1995;57:1233–1241.January 2011 33