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

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

<p>Abstract</p> <p>Background</p> <p>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 dis...

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Bibliographic Details
Main Authors: Moggio Maurizio, Capovilla Giuseppe, Cagdas Sophie, Collotta Martina, Sciacco Monica, Rizzuti Mafalda, Fortunato Francesco, Bordoni Andreina, Orcesi Simona, Tonduti Davide, Cosi Alessandra, Ronchi Dario, Berardinelli Angela, Veggiotti Pierangelo, Comi Giacomo P
Format: Article
Language:English
Published: BMC 2011-07-01
Series:BMC Neurology
Subjects:
Leigh Syndrome
mitochondrial DNA
LHON
MT-ND6
MT-CYB
mitochondrial Complex I
Online Access:http://www.biomedcentral.com/1471-2377/11/85

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