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Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.

作者信息

Boaretto F, Vettori A, Casarin A, Vazza G, Muglia M, Rossetto M G, Cavallaro T, Rizzuto N, Carelli V, Salviati L, Mostacciuolo M L, Martinuzzi A

机构信息

Department of Biology, University of Padova, Italy.

出版信息

Neurology. 2010 Jun 8;74(23):1919-21. doi: 10.1212/WNL.0b013e3181e240f9.

DOI:10.1212/WNL.0b013e3181e240f9
PMID:20530328
Abstract
摘要

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