Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

Abstract Background Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly. Herein, we identified a novel compound heterozygous mutations of...

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Bibliographic Details
Main Authors: Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao, Huaipeng Huang
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Infectious Diseases
Subjects:
Niemann-pick disease
Compound heterozygous mutations
NPC1 gene
Novel mutation
Case report
Online Access:https://doi.org/10.1186/s12879-024-09025-5

Internet

https://doi.org/10.1186/s12879-024-09025-5

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