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 muta...

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Detalhes bibliográficos

Principais autores:	Lía Mayorga, Juan A. Cueto, Adriana P. Correa, María J. Guillamondegui, Mariana A. Loos, Verónica H. Araoz, Sergio R. Laurito, María Roqué
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis Group 2019-01-01
coleção:	Mitochondrial DNA. Part B. Resources
Assuntos:	leigh syndrome mitochondrial dna mlpa
Acesso em linha:	http://dx.doi.org/10.1080/23802359.2018.1553510
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