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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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| Publicado en: | BMC Med Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6142338/ https://ncbi.nlm.nih.gov/pubmed/30223778 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0683-9 |
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