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Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
Kontogeorgiou Z, Nikolaou K, Kartanou C, Breza M, Panas M, Karadima G, Koutsis G. Kontogeorgiou Z, et al. J Peripher Nerv Syst. 2019 Mar;24(1):125-130. doi: 10.1111/jns.12305. Epub 2019 Feb 6. J Peripher Nerv Syst. 2019. PMID: 30653784
Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities, and cranial nerve involvement. ...Although …
Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating perip …
Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.
Sy A, Cheng J, Cooper R, Mueller L. Sy A, et al. J Pediatr Hematol Oncol. 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. J Pediatr Hematol Oncol. 2019. PMID: 29877907 Review.
We report a case of an effect of VCR administration given to a patient who developed grade 4 neuropathy and was found to be a carrier of Charcot-Marie-Tooth disease type 4....
We report a case of an effect of VCR administration given to a patient who developed grade 4 neuropathy and was found to be a carrier of …