Loss of Mtmr2 Phosphatase in Schwann Cells But Not in Motor Neurons Causes Charcot-Marie-Tooth Type 4B1 Neuropathy with Myelin Outfoldings

Mutations in MTMR2, the myotubularin-related 2 gene, cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1). This disorder is characterized by childhood onset of weakness and sensory loss, severely decreased nerve conduction velocity, demyelination in the nerve with myelin outfoldings, and...

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Pubblicato in:J Neurosci
Autori principali: Bolis, Annalisa, Coviello, Silvia, Bussini, Simona, Dina, Giorgia, Pardini, Celia, Previtali, Stefano Carlo, Malaguti, Mariachiara, Morana, Paolo, Del Carro, Ubaldo, Feltri, Maria Laura, Quattrini, Angelo, Wrabetz, Lawrence, Bolino, Alessandra
Natura: Artigo
Lingua:Inglês
Pubblicazione: Society for Neuroscience 2005
Soggetti:
Neurobiology of Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6725661/
https://ncbi.nlm.nih.gov/pubmed/16162938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2493-05.2005
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