Article
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
Gene - 23 Jan 2002
Bolino Alessandra, Marigo Valeria, Ferrera Francesca, Loader Julie, Romio Leila, Leoni Antonio, Di Duca Marco, Cinti Roberta, Cecchi Chiara, Feltri Maria Laura, Wrabetz Lawrence, Ravazzolo Roberto, Monaco Anthony P
Abstract excerpt
Charcot-Marie-Tooth type 4B (CMT4B) is caused by mutations in the myotubularin-related 2 gene, MTMR2, on chromosome 11q22. To date, six loss of function mutations and one missense mutation have been demonstrated in CMT4B patients. It remains to be determined how dysfunction of a ubiquitously expressed phosphatase causes a demyelinating neuropathy. An animal model for CMT4B would provide insights into the...
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