Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
Authors Houlden H, King RH, Wood NW, Thomas PK, Reilly MM
Reference Brain 124: 907-915, 2001 (PubMed ID: 11335693 )
MTMR2: (Thr3Lys) ([Gly103Glu]+[Gly103Glu]) ([Thr108fs]+[Thr108fs]) (Thr377Thr) (Thr411Thr)
Mutations

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