Charcot–Marie–Tooth disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg200931.pdf
Reference48 articles.
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2. Gemignani F, Marbini A, Di Giovanni G, Salih S, Terzano MG : Charcot–Marie–Tooth disease type 2 with restless legs syndrome. Neurology 1999; 52: 1064–1066.
3. Li J, Krajewski K, Shy ME, Lewis RA : Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002; 58: 1769–1773.
4. Boylan KB, Ferriero DM, Greco CM, Sheldon RA, Dew M : Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol 1992; 31: 337–340.
5. De Jonghe P, Timmerman V, Ceuterick C et al: The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype. Brain 1999; 122 (Part 2): 281–290.
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