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

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 physical di...

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Detalles Bibliográficos
Autores principales: Zheng, Shouyan, Liao, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142338/
https://www.ncbi.nlm.nih.gov/pubmed/30223778
http://dx.doi.org/10.1186/s12881-018-0683-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142338/
https://www.ncbi.nlm.nih.gov/pubmed/30223778
http://dx.doi.org/10.1186/s12881-018-0683-9

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