Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy

Abstract Background PNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies. The clinical phenotype, blood test results, imaging examination and gene analysis can be used to improve the understanding of NLSD-M, reduce the misdiagnosis rate and prevent phy...

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Bibliographic Details
Main Authors: Shouyan Zheng, Wei Liao
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
PNPLA2
NLSD-M
Gene mutation
Children
Online Access:http://link.springer.com/article/10.1186/s12881-018-0683-9

Internet

http://link.springer.com/article/10.1186/s12881-018-0683-9

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