Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant

Clin Neurol Neurosurg. 2023 May:228:107670. doi: 10.1016/j.clineuro.2023.107670. Epub 2023 Mar 13.

¹ Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
² Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address: yaguchi-h@pop.med.hokudai.ac.jp.
³ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.
⁴ Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address: yabe@med.hokudai.ac.jp.

No abstract available

Keywords: Neutral lipid storage disease with myopathy (NLSDM); PNPLA2 gene.

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