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 mu...

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Detalles Bibliográficos
Autores: Mayorga, Lía, Cueto, Juan Agustin, Correa, Adriana P., Guillamondegui, María J., Loos, Mariana, Araoz, Verónica H., Laurito, Sergio Roberto, Roqué, María
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/123991
Acceso en línea:http://hdl.handle.net/11336/123991
Access Level:acceso abierto
Palabra clave:LEIGH SYNDROME
MITOCHONDRIAL DNA
MLPA
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
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spelling Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplificationMayorga, LíaCueto, Juan AgustinCorrea, Adriana P.Guillamondegui, María J.Loos, MarianaAraoz, Verónica H.Laurito, Sergio RobertoRoqué, MaríaLEIGH SYNDROMEMITOCHONDRIAL DNAMLPAhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Leigh 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 is not widely used. We present a MILS patient in which MLPA was able to detect the common m.8993 T > G mutation and serve as a first approach for the definite molecular diagnosis.Fil: Mayorga, Lía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Cueto, Juan Agustin. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Correa, Adriana P.. Hospital Pediátrico A. Fleming; ArgentinaFil: Guillamondegui, María J.. Hospital Pediátrico A. Fleming; ArgentinaFil: Loos, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Araoz, Verónica H.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Laurito, Sergio Roberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Roqué, María. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaTaylor & Francis Ltd2019-01-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/123991Mayorga, Lía; Cueto, Juan Agustin; Correa, Adriana P.; Guillamondegui, María J.; Loos, Mariana; et al.; Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification; Taylor & Francis Ltd; Mitochondrial DNA Part B: Resources; 4; 1; 12-1-2019; 530-5332380-2359CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1080/23802359.2018.1553510info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.1080/23802359.2018.1553510info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:53:50Zoai:ri.conicet.gov.ar:11336/123991instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 13:53:50.846CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
title Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
spellingShingle Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
Mayorga, Lía
LEIGH SYNDROME
MITOCHONDRIAL DNA
MLPA
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
title_short Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
title_full Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
title_fullStr Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
title_full_unstemmed Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
title_sort Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
dc.creator.none.fl_str_mv Mayorga, Lía
Cueto, Juan Agustin
Correa, Adriana P.
Guillamondegui, María J.
Loos, Mariana
Araoz, Verónica H.
Laurito, Sergio Roberto
Roqué, María
author Mayorga, Lía
author_facet Mayorga, Lía
Cueto, Juan Agustin
Correa, Adriana P.
Guillamondegui, María J.
Loos, Mariana
Araoz, Verónica H.
Laurito, Sergio Roberto
Roqué, María
author_role author
author2 Cueto, Juan Agustin
Correa, Adriana P.
Guillamondegui, María J.
Loos, Mariana
Araoz, Verónica H.
Laurito, Sergio Roberto
Roqué, María
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv LEIGH SYNDROME
MITOCHONDRIAL DNA
MLPA
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
topic LEIGH SYNDROME
MITOCHONDRIAL DNA
MLPA
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
description 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 is not widely used. We present a MILS patient in which MLPA was able to detect the common m.8993 T > G mutation and serve as a first approach for the definite molecular diagnosis.
publishDate 2019
dc.date.none.fl_str_mv 2019-01-12
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/123991
Mayorga, Lía; Cueto, Juan Agustin; Correa, Adriana P.; Guillamondegui, María J.; Loos, Mariana; et al.; Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification; Taylor & Francis Ltd; Mitochondrial DNA Part B: Resources; 4; 1; 12-1-2019; 530-533
2380-2359
CONICET Digital
CONICET
url http://hdl.handle.net/11336/123991
identifier_str_mv Mayorga, Lía; Cueto, Juan Agustin; Correa, Adriana P.; Guillamondegui, María J.; Loos, Mariana; et al.; Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification; Taylor & Francis Ltd; Mitochondrial DNA Part B: Resources; 4; 1; 12-1-2019; 530-533
2380-2359
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1080/23802359.2018.1553510
info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.1080/23802359.2018.1553510
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Taylor & Francis Ltd
publisher.none.fl_str_mv Taylor & Francis Ltd
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 15,812429

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