Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Søren Kristian Nielsen"'
Autor:
Thomas Morris Hey, MD, PhD, Søren Kristian Nielsen, MD, Ulrik Eriksen, MD, PhD, Frederikke Hansen, MD, Jens Mogensen, MD, DMsc, PhD
Publikováno v:
CJC Open, Vol 4, Iss 9, Pp 813-815 (2022)
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 resembl
Externí odkaz:
https://doaj.org/article/6ec0d46dc45d4375b68b95cd8dd3389c
Publikováno v:
Hey, T M, Nielsen, S K, Eriksen, U, Hansen, F & Mogensen, J 2022, ' Leber's Hereditary Optic Neuropathy and Hypertrophic Cardiomyopathy ', CJC open, vol. 4, no. 9, pp. 813-815 . https://doi.org/10.1016/j.cjco.2022.06.005
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 resemblin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfaf06d96287b8499940926e6477f7e
https://vbn.aau.dk/ws/files/488782042/Hey_et_al._2022_._Leber_s_Hereditary_Optic_Neuropathy_and_Hypertrophic_Cardiomyopathy.pdf
https://vbn.aau.dk/ws/files/488782042/Hey_et_al._2022_._Leber_s_Hereditary_Optic_Neuropathy_and_Hypertrophic_Cardiomyopathy.pdf
