Article
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Human mutation - 1 Feb 2020
Barcia Giulia, Rio Marlène, Assouline Zahra, Zangarelli Coralie, Gueguen Naig, Dumas Valerie D, Marcorelles Pascale, Schiff Manuel, Slama Abdelhamid, Barth Magalie, Hully Marie, de Lonlay Pascale, Munnich Arnold, Desguerre Isabelle, Bonnefont Jean-Paul, Steffann Julie, Procaccio Vincent, Boddaert Nathalie, Rötig Agnès, Metodiev Metodi D, Ruzzenente Benedetta
Abstract excerpt
Pathogenic GFM1 variants have been linked to neurological phenotypes with or without liver involvement, but only a few cases have been reported in the literature. Here, we report clinical, biochemical, and neuroimaging findings from nine unrelated children carrying GFM1 variants, 10 of which were not previously reported. All patients presented with neurological involvement-mainly axial hypotonia and dystonia...
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