Abstract:Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents $10-20% of LS. Mutations in MT-ATP6 are the most common, being m.8993T > C/G the classical mutations. Molecular diagnosis for mitochondrial diseases is always a challenge and Multiplex ligationdependent probe amplification (MLPA) of mitochondrial DNA can be an initial test for molecular diagnosis, although it… Show more
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