CAV-3-related age-dependent muscle diseases: A novel mutation in mother and son

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dc.authoridTekin, Hande/0000-0002-4407-164X
dc.authorwosidTekin, Hande/AAA-8892-2021
dc.contributor.authorTekin, Hande
dc.contributor.authorEdem, Pinar
dc.date.accessioned2024-03-09T18:48:50Z
dc.date.available2024-03-09T18:48:50Z
dc.date.issued2023
dc.departmentİzmir Bakırçay Üniversitesien_US
dc.description.abstractThe caveolin-3 protein encoded by the CAV-3 gene is a muscle-specific protein found in skeletal, smooth, and cardiac muscle. Caveolin-3 defects lead to several muscle diseases: rippling muscle cardiomyopathy, and asymptomatic hyper-CK-emia. While some variants that cause mutations in this gene cause a pure type of disease, some variants may appear as overlap syndromes. Even in the same variants of CAV-3 mutation, the type of muscle disease, its severity, and time of occurrence can be variable. For this reason, it should be known that CAV-3-related diseases and all overlapping diseases can be seen over time, and the patient should be followed up. We report here a 9-yearold boy and his 38-year-old mother who were investigated for asymptomatic hyper-CK-emia and diagnosed with caveolinopathy. The boy had calf hypertrophy and percussion-induced rapid muscle contraction (PIRCs). His mother had calf hypertrophy, contractions due to percussion, and proximal muscle weakness. Mother's proximal muscles and m. gastrocnemius magnetic resonance imaging (MRI) was normal. The mother had complaints of weakness, showing slow progression starting from the second decade. Heterozygous (ENST000003cav3849.2) c.298A>T p.Ile100Phe variant in exon 2 was detected in the CAV-3 gene. This mutation is classified as pathogenic according to The American College of Medical Genetics and Genomics (ACMG) criteria (PM1, PM2, PP3, PM5). In conclusion, calves' pseudohypertrophy and mildly raised CK without weakness can be the initial presentation of caveolinopathy. Percussion-induced muscle contractions, rather than muscle rippling, can occur at a young age. The onset of muscle weakness can be delayed during adolescence and can have a slowly deteriorating course associated with myalgia.en_US
dc.identifier.doi10.54029/2023scy
dc.identifier.endpage755en_US
dc.identifier.issn1823-6138
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85174145710en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage751en_US
dc.identifier.urihttps://doi.org/10.54029/2023scy
dc.identifier.urihttps://hdl.handle.net/20.500.14034/1506
dc.identifier.volume28en_US
dc.identifier.wosWOS:001085393800034en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherAsean Neurological Assocen_US
dc.relation.ispartofNeurology Asiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCav-3; Children; Percussion-Induced Rapid Muscle Contraction (Pircs); Lgmd1cen_US
dc.titleCAV-3-related age-dependent muscle diseases: A novel mutation in mother and sonen_US
dc.typeArticleen_US

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