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Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C

Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there...

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Bibliografiske detaljer
Udgivet i:Case Rep Neurol
Main Authors: Grewal, Raji P., Oberoi, Kinsi, Peddareddygari, Leema Reddy
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836280/
https://ncbi.nlm.nih.gov/pubmed/29515423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000486589
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