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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Bibliografske podrobnosti
izdano v:Ann Clin Transl Neurol
Main Authors: Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Brief Communications
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187698/
https://ncbi.nlm.nih.gov/pubmed/32237276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51024
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