Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

BACKGROUND: Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting...

Descripción completa

Detalles Bibliográficos
Autores principales: Ronchi, Dario, Cosi, Alessandra, Tonduti, Davide, Orcesi, Simona, Bordoni, Andreina, Fortunato, Francesco, Rizzuti, Mafalda, Sciacco, Monica, Collotta, Martina, Cagdas, Sophie, Capovilla, Giuseppe, Moggio, Maurizio, Berardinelli, Angela, Veggiotti, Pierangelo, Comi, Giacomo P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148968/
https://www.ncbi.nlm.nih.gov/pubmed/21749722
http://dx.doi.org/10.1186/1471-2377-11-85

Ejemplares similares

Ejemplares similares