Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing an old version of this page that was saved on January 7, 2013 at 10:26am by Madeleine Ball.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM,
Ouvrier RA. Severe early-onset axonal neuropathy with homozygous and compound
heterozygous MFN2 mutations. Neurology. 2008 May 6;70(19):1678-81. doi:
10.1212/01.wnl.0000311275.89032.22. PubMed PMID: 18458227.
Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P,
Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC,
Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by
mitofusin 2 mutations. Arch Neurol. 2009 Dec;66(12):1511-6. doi:
10.1001/archneurol.2009.284. PubMed PMID: 20008656.