Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

Neuromuscular Disorders : NMD
Caitlin S LatimerLuis F Gonzalez-Cuyar

Abstract

Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy. Genetic testing revealed a homozygous splice site variant in PNPLA2, c.757 + 1G > T. This case, in combination with the one previously reported case of this PNPLA2 variant, also in a family of Hmong descent, suggests this particular variant may be unique to the Hmong population, a Southeast Asian minority group living in the United States, who immigrated to the United States as refugees after the Vietnam War.

Citations

Oct 28, 2019·Orphanet Journal of Rare Diseases·Wei ZhangYun Yuan
Dec 12, 2020·Neuromuscular Disorders : NMD·Daniela Avila-SmirnowRoger Gejman-Enríquez

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