A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth, they both presented with bilateral cryptorchidism and malformations. Since early adulthood, they developed a slowly progressive neurological syndrome, with cerebellar and pyramidal signs, cognitive...

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Enregistré dans:
Détails bibliographiques
Publié dans:EMBO Mol Med
Auteurs principaux: Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, d'Adamo, Pio, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo
Format: Artigo
Langue:Inglês
Publié: John Wiley & Sons, Ltd 2015
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520657/
https://ncbi.nlm.nih.gov/pubmed/25872942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404803
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