1.
Metab Brain Dis
; 30(4): 1083-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25550170
RESUMO
Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.
Assuntos
Encefalomiopatias Mitocondriais/diagnóstico , Encefalomiopatias Mitocondriais/genética , Mutação/genética , Fenótipo , Adulto , Seguimentos , Regulação da Expressão Gênica , Humanos , Masculino , NADH Desidrogenase/genética
2.
J Appl Genet
; 50(1): 55-62, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19193984
RESUMO
There are many theories of aging and a number of them encompass the role of mitochondria in this process. Mitochondrial DNA mutations and deletions have been shown to accumulate in many tissues in mammals during aging. However, there is little evidence that these mutations could affect the functioning of aging tissues.