Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification

Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification

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 m...

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Bibliographic Details
Main Authors: Lía Mayorga, Juan A. Cueto, Adriana P. Correa, María J. Guillamondegui, Mariana A. Loos, Verónica H. Araoz, Sergio R. Laurito, María Roqué
Format: Article
Language:English
Published: Taylor & Francis Group 2019-01-01
Series:Mitochondrial DNA. Part B. Resources
Subjects:
leigh syndrome
mitochondrial dna
mlpa
Online Access:http://dx.doi.org/10.1080/23802359.2018.1553510

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