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...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2011
Θέματα:
Case Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3148968/
https://ncbi.nlm.nih.gov/pubmed/21749722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-11-85
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