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Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia
OBJECTIVE: To establish molecular diagnosis for a family with a complicated form of autosomal recessive hereditary spastic paraplegia with intellectual disability, cognitive decline, psychosis, peripheral neuropathy, upward gaze palsy, and thin corpus callosum (TCC). METHODS: Physical examinations,...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7577544/ https://ncbi.nlm.nih.gov/pubmed/33134512 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000514 |
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