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DNM2

MIM.602378 19p

Pathology

- germline mutations in DNM2 in dominant intermediate Charcot-Marie-Tooth disease type B (MIM.606482)

See also

- DNMs

References

- Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov;37(11):1207-9. PMID: #16227997#