A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism

Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. Case Presentation: This report presents a case study of a...

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Veröffentlicht in:	Molecular syndromology 2024-10, p.1-6
Hauptverfasser:	Şenol, Hüseyin Bahadır, Kısa, Pelin Teke, Kulu, Bahar, Ören, Hale, Arslan, Nur, Yiş, Uluç
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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