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Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant
OBJECTIVE: To describe a Filipino patient with adult-onset Sandhoff disease manifesting with an atypical asymmetric lower motor neuron syndrome due to a novel whole HEXB deletion in trans with a pathogenic missense variant and with a coexisting MYH7 pathogenic variant. METHODS: We performed clinical...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9199104/ https://www.ncbi.nlm.nih.gov/pubmed/35711818 http://dx.doi.org/10.1212/NXG.0000000000000672 |