Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L...

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Detalles Bibliográficos
Autores principales: Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029005/
https://www.ncbi.nlm.nih.gov/pubmed/31527857
http://dx.doi.org/10.1038/s41431-019-0506-2

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