Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Authors Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MAM, Georgiou DM, Christodoulou K, Hausmanova-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco A
Reference Nat Genet 25: 17-19, 2000 (PubMed ID: 10802647 )
MTMR2: ([Glu276X;Phe494_Glu531del]+[Glu276X;Phe494_Glu531del]) ([Gln426X]+[Gln426X]) ([Gln482X]+[Arg477X]) ([Tyr579fs]+[Tyr579fs])
Mutations

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