Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

Mutations in MTMR2, the myotubularin-related 2 gene, cause autosomal recessive Charcot-Marie-Tooth (CMT) type 4B1, a demyelinating neuropathy with myelin outfolding and azoospermia. MTMR2 encodes a ubiquitously expressed phosphatase whose preferred substrate is phosphatidylinositol (3,5)-biphosphate...

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Autors principals: Bolino, Alessandra, Bolis, Annalisa, Previtali, Stefano Carlo, Dina, Giorgia, Bussini, Simona, Dati, Gabriele, Amadio, Stefano, Del Carro, Ubaldo, Mruk, Dolores D., Feltri, Maria Laura, Cheng, C. Yan, Quattrini, Angelo, Wrabetz, Lawrence
Format: Artigo
Idioma:Inglês
Publicat: The Rockefeller University Press 2004
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2172586/
https://ncbi.nlm.nih.gov/pubmed/15557122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1083/jcb.200407010
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