A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
Galvão de Oliveira M, Tengan C, Micheletti C, Ramos de Macedo P, Soares Pinho Cernach MC, Cavole TR, de França Basto M, Filho JS, Virmond LA, Milanezi F, Nakano V, Falconi A, Perrone E.
Galvão de Oliveira M, et al.
Eur J Med Genet. 2021 May;64(5):104195. doi: 10.1016/j.ejmg.2021.104195. Epub 2021 Mar 18.
Eur J Med Genet. 2021.
PMID: 33746038
Review.
Therefore, high energy demand organs and tissues are affected in patients with mutations in the COX15 gene, with variable phenotypic expressiveness. We describe the case of a male newborn with hypertrophic cardiomyopathy and serum and cerebrospinal fluid hyperlacticaemia, …
Therefore, high energy demand organs and tissues are affected in patients with mutations in the COX15 gene, with variable phenotypic …