Expanding the clinical and genetic heterogeneity of SPAX5

Mutations in the ATPase family 3‐like gene (AFG3L2) have been linked to autosomal‐dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia‐neuropathy syndrome. Here, we describe the case of a child carrying bi‐allelic mutations in AFG3L2 and presenting with ictal paroxysmal epi...

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Detalles Bibliográficos
Autores principales: Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187698/
https://www.ncbi.nlm.nih.gov/pubmed/32237276
http://dx.doi.org/10.1002/acn3.51024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187698/
https://www.ncbi.nlm.nih.gov/pubmed/32237276
http://dx.doi.org/10.1002/acn3.51024

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