Article
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Brain : a journal of neurology - 2 May 2023
Boutaud Lucile, Ruzzenente Benedetta, Tessier Aude, Anselem Olivia, Pannier Emmanuelle, Grotto Sarah, Talhi Naïma, Amram Daniel, Willems Marjolaine, Wells Constance, Blanchet Patricia, Musizzano Yuri, Jauny Clémence, Nitschke Patrick, Bole-Feysot Christine, Bessières Bettina, Salhi Houria, Achaiaa Amale, Metodiev Metodi D, Razavi Ferechte, Rötig Agnès, Loeuilllet Laurence, Attié-Bitach Tania
Abstract excerpt
Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However, in utero corpus callosum anomalies rarely raise a suspicion of mitochondrial disease and are characterized by a very large clinical heterogeneity. Here, we report a...
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