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You are viewing an old version of this page that was saved on January 7, 2013 at 10:52am 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
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.
Edited in this revision:
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.
A survey of of 107 unrelated patients with type 2 Charcot-Marie-Tooth disease and 43 “median” cases (type 1, but close to the threshold motor nerve conduction velocity used to separate types). Three patients from one family were found to be compound heterozygous for this variant and G108R. The authors report that the parents (each carrying one of these variants) show no symptoms of neuropathy and had normal electroneuromyographic findings.