Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is crucial for the modulation of membrane trafficki...

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Main Authors: Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Neuroscience
Subjects:
Charcot-Marie-Tooth disease type 4B1
myotubularin-related 2 gene
whole-exome sequencing
phosphoinositides
membrane remodeling
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2019.00974/full

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https://www.frontiersin.org/article/10.3389/fnins.2019.00974/full

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