A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.

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ID: 100651
2020
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Ranked #11 of 14 articles by views in clinical neurology and neurosurgery

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Abstract
Caveolins are essential proteins in caveolae architecture, small plasma membrane invaginations that play a key role in a variety of cellular processes, including vesicular trafficking and signal transduction. Mutations in the gene encoding caveolin-3 (CAV3) cause a broad spectrum of clinical phenotypes, ranging from isolated hyperCKemia to most severe limb girdle muscular dystrophy and cardiomyopathy. We report a novel heterozygous p.Val44Met (c.130G > A) CAV3 mutation in two brothers presenting with persistent elevation of serum creatine kinase, myalgia and hypercholesterolemia. Immunofluorescence study with anticaveolin-3 antibodies on muscle biopsy of the proband confirmed a reduced immuno-reactivity of caveolin-3 on the sarcolemma. This findings support the pathogenic effect of this novel mutation and extend the genotypic and clinical spectrum of Caveolinopathies. Finally, we discuss the hypothesis that the association between CAV3 mutations and hypercholesterolemia may not be coincidental.
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bruno2020aclinical Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Bruno, Giorgia;Puoti, Gianfranco;Oliva, Mariano;Colavito, Davide;Allegorico, Lia;Napolitano, Filomena;Sampaolo, Simone;
Journal clinical neurology and neurosurgery
Year 2020
DOI
S0303-8467(20)30030-5
URL
Keywords
hypercholesterolemia genetic diseases creatine kinase myalgia caveolin-3 caveolinopathy muscular diseases

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