- Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportDario Ronchi
Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy
BMC Neurol 11:85. 2011..Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors...