Casuística
Nueva mutación en C10Orf2 (PEO1) en paciente con oftalmoplejía crónica progresiva mitocondrial dominante (adCPEO), primer caso argentino
A novel mutation in C10Orf2 (PEO1) in a patient with autosomal dominant chronic progressive ophtalmoplegia (adCPEO), first Argentinean case
Andrés Berardoa,b,
, Henry Riverac,d, Laura Pirrab, Alberto Dubrovskyb, Belén Bornsteind,e, Miguel A. Martinc,d
Autor para correspondencia
a Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Universitario Austral, Buenos Aires, Argentina
b Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Instituto de Neurociencias Fundación Favaloro, Buenos Aires, Argentina
c Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, España
d Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, España
e Laboratorio de Genética Molecular, Hospital Universitario Puerta de Hierro, Madrid, España
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