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A homozygous<i>ATP2A2</i>variant alters sarcoendoplasmic reticulum Ca<sup>2+</sup>-ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathy

2024-05-16

Abstract excerpt

<h4>Background</h4> Sarcoendoplasmic reticulum Ca 2+ -ATPase isoform 2 (SERCA2), encoded by ATP2A2 , is a key protein involved in intracellular Ca 2+ homeostasis. The transcript SERCA2a is predominantly expressed in cardiac muscle and in type I myofibers, while SERCA2b is ubiquitously expressed including in skin cells. To date, variants in this gene were reported to be the cause of Darier disease, an autosomal dom...

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Literature Corpus work
0ca2529d-a283-5199-a474-e7879a4c8e04
DOI
10.1101/2024.05.14.24307284
Open publication

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