| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10882947 | Mitochondrion | 2012 | 6 Pages |
Abstract
⺠We report novel GFM1 mutations associated either with encephalopathy or liver failure. ⺠Muscle and fibroblasts showed variable respiratory chain deficiency. ⺠The various clinical phenotypes could be related to the localization of the mutations.
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Authors
Louise Galmiche, Valérie Serre, Marine Beinat, Raïssa Zossou, Zahra Assouline, Anne-Sophie Lebre, Florence Chretien, Ruthie Shenhav, Avraham Zeharia, Ann Saada, Vanessa Vedrenne, Nathalie Boddaert, Pascale de Lonlay, Marlène Rio, Arnold Munnich,