Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report

BACKGROUND: The point mutation at position 3243 in the mitochondrial MT-TL1 gene (m.3243A > G) is a rare cause of hypertrophic cardiomyopathy (HCM). Information about HCM progression over time and occurrence of different cardiomyopathies in m.3243A > G carriers of the same family is still lack...

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Detalles Bibliográficos
Autores principales: Seiler, Florian, Ruile, Philipp, Moser, Martin, Helbing, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972186/
https://www.ncbi.nlm.nih.gov/pubmed/36865084
http://dx.doi.org/10.1093/ehjcr/ytad073

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972186/
https://www.ncbi.nlm.nih.gov/pubmed/36865084
http://dx.doi.org/10.1093/ehjcr/ytad073

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