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POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

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The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric cancer, no disease association has been described. We describe a… Click to show full abstract

The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric cancer, no disease association has been described. We describe a new muscular dystrophy associated with this gene.

Keywords: popdc3 gene; gene variants; muscular dystrophy; variants associate; gene

Journal Title: Annals of Neurology
Year Published: 2019

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