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...

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Detalles Bibliográficos
Autores principales: Beecher, Grayson, Liewluck, Teerin, Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
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

Internet

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

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