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Charcot-Marie-Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.
Gallardo E, García A, Ramón C, Maraví E, Infante J, Gastón I, Alonso Á, Combarros O, De Jonghe P, Berciano J. Gallardo E, et al. J Neurol. 2009 Dec;256(12):2061-71. doi: 10.1007/s00415-009-5251-y. J Neurol. 2009. PMID: 19629567
Disease severity in terms of ability to walk and run was established using a nine-point functional disability scale (FDS). We administered the CMT neuropathy score (CMTNS) based on patient's symptoms, neurologic examination and neurophysiologic testing. ...The proband and …
Disease severity in terms of ability to walk and run was established using a nine-point functional disability scale (FDS). We administered t …
A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Carolina O, Heuss D, Del Valle G, Rautenstrauss B. Leal A, et al. Rev Biol Trop. 2014 Dec;62(4):1285-93. doi: 10.15517/rbt.v62i4.13473. Rev Biol Trop. 2014. PMID: 25720167
The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families a …
The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type …