IQUIBICEN 23947
INSTITUTO DE QUIMICA BIOLOGICA DE LA FACULTAD DE CIENCIAS EXACTAS Y NATURALES
Unidad Ejecutora - UE
artículos
Título:
Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
Autor/es:
JUAN A. CUETO; MARIANA A. LOOS; MARIA ROQUE; LIA MAYORGA; MARIA J. GUILLAMONDEGUI; SERGIO R. LAURITO; ADRIANA P. CORREA; VERONICA H. ARAOZ
Revista:
Mitochondrial DNA Part B
Editorial:
Taylor & Francis Online
Referencias:
Lugar: Oxford; Año: 2019 vol. 4 p. 530 - 533
ISSN:
2380-2359
Resumen:
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 classicalmutations. 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 thecommon m.8993 T > G mutation and serve as a first approach for the definite molecular diagnosis.
