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Nerve conduction studies in Charcot–Marie–Tooth disease in a cohort from Turkey
Author(s) -
Deymeer Feza,
Matur Zeliha,
Poyraz Muruvvet,
Battaloglu Esra,
OflazerSerdaroglu Piraye,
Parman Yesim
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21932
Subject(s) - connexin 32 , peripheral myelin protein 22 , myelin , nerve conduction , nerve conduction velocity , mutation , gene duplication , medicine , anatomy , pathology , genetics , biology , gene , connexin , central nervous system , intracellular , gap junction
: In the demyelinating form of Charcot–Marie–Tooth disease, median motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral myelin protein 22 ( PMP22 ) duplications, in contrast to higher MCVs in connexin 32 gene ( Cx32 ) mutations and lower MCVs in the demyelinating form of myelin protein zero gene ( MPZ ) mutations.Methods : Nerve conduction studies were performed in 64 families with both common and rare mutations.Results : Mean MCV of the median nerve was 20 ± 5 m/s in PMP22 duplications, 34 ± 6 m/s in Cx32 mutations, 20 ± 9 m/s in KIAA1985 ( SH3TC2 ) mutations, and 11 ± 8 m/s in MPZ mutations. Conduction was generally uniform; however, conduction blocks were present in 1 patient each with the MPZ mutation and PMP22 duplication, both with unusual phenotypes.Conclusion : Our results confirm those of the other investigators. Electrophysiological results of the rare KIAA1985 ( SH3TC2 ) mutation reveal that their MCVs span a broad range and that conduction is uniform. Muscle Nerve, 2011