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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...
Autores principales: | Seiler, Florian, Ruile, Philipp, Moser, Martin, Helbing, Thomas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
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 |
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