Ontology highlight
ABSTRACT:
SUBMITTER: Samukawa M
PROVIDER: S-EPMC7592920 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
European neurology 20200619 3
Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutati ...[more]