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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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| Publicado no: | Ann Clin Transl Neurol |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | 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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