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Article

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene

29 Jul 2019

Abstract excerpt

BACKGROUND/PURPOSE: Type 1 sialidosis is a rare autosomal recessive lysosomal storage disease caused by Neuraminidase 1 (NEU1) gene mutations. We report a type 1 sialidosis patient with a novel deletion mutation in NEU1 and compared the phenotypes within different ethnicities. METHODS: Targeted next generation sequencing and segregation analysis were performed to identify the causative gene mutation of the index...

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Identifiers

PMID: 31371146
DOI: 10.1016/j.jfma.2019.07.017

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