Inherited Peripheral Neuropathies Mutation Database

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Title Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Authors Z├╝chner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD,Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battologlu E, Polyakov AV, Timmerman V et al.
Reference Nat Genet 36: 449-451, 2004 (PubMed ID: 15064763 )
MFN2: (Val69Phe) (Leu76Pro) (Arg94Trp) (Arg94Gln) (Thr105Met) (Pro251Ala) (Arg274Gln) (Arg280His) (Arg418X) (Trp740Ser)

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