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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Neurosci
Main Authors: Wang, Haicui, Kaçar Bayram, Ayşe, Sprute, Rosanne, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Azizi Malamiri, Reza, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yaşar, Mehmet, Sami Güven, Ahmet, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Hüseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda, Cirak, Sebahattin
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6807680/
https://ncbi.nlm.nih.gov/pubmed/31680794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2019.00974
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados