Your browser doesn't support javascript.
loading
A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.
Svagusa, Tomo; Sedlic, Filip; Zupanic, Sven; Manola, Sime; Bakos, Matija; Mirosevic, Vid; Livun, Ana.
Afiliação
  • Svagusa T; Department of Cardiovascular Diseases, Dubrava University Hospital, Zagreb, Croatia.
  • Sedlic F; Department of Pathophysiology, University of Zagreb School of Medicine, Zagreb, Croatia.
  • Zupanic S; Department of Neurology, Dubrava University Hospital, Zagreb, Croatia.
  • Manola S; Department of Cardiovascular Diseases, Dubrava University Hospital, Zagreb, Croatia.
  • Bakos M; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Mirosevic V; Department of Pathophysiology, University of Zagreb School of Medicine, Zagreb, Croatia.
  • Livun A; Department of Scientific Research and Translational Medicine, Dubrava University Hospital, Zagreb, Croatia.
Clin Genet ; 106(5): 659-660, 2024 Nov.
Article em En | MEDLINE | ID: mdl-38992921
ABSTRACT
Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Miopatias Congênitas Estruturais / Proteínas com Domínio LIM / Mutação Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Miopatias Congênitas Estruturais / Proteínas com Domínio LIM / Mutação Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article