a compound heterozygous patient with Progressive external ophtalmoplegia carrying mutations in Polg1 gene and Twinkle gene
Progressive external ophtalmoplegia in a patient with both a twinkle mutation and a novel polg1 variation: a case of digenic inheritance? / P. Da Pozzo, A. Rubegni, A. Rufa, E. Cardaioli, I.Taglia, G. Gallus, C. Battisti, A. Malandrini, A. Federico. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-3478. - STAMPA. - 34:(2013), pp. 435-435. (XLIV congress of the italian neurological society Milano, MiCo 2-5 November).
Progressive external ophtalmoplegia in a patient with both a twinkle mutation and a novel polg1 variation: a case of digenic inheritance?
TAGLIA, ILARIA;
2013
Abstract
a compound heterozygous patient with Progressive external ophtalmoplegia carrying mutations in Polg1 gene and Twinkle gene
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