Leber’s Hereditary Optic Neuropathy and Hypertrophic Cardiomyopathy

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial condition that gradually affects the central vision. In the current case report, we present 2 relatives with LHON due to a pathogenic variant within ND1 with a clinical phenotype resembling hypertrophic cardiomyopathy, including a short P...

Descripción completa

Detalles Bibliográficos
Autores principales: Hey, Thomas Morris, Nielsen, Søren Kristian, Eriksen, Ulrik, Hansen, Frederikke, Mogensen, Jens
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9486854/
https://www.ncbi.nlm.nih.gov/pubmed/36148257
http://dx.doi.org/10.1016/j.cjco.2022.06.005

Ejemplares similares

Ejemplares similares