Rodríguez-López, Claudia <br/><br/>
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.  [electronic resource] 

 -  Journal of medical genetics  09 2020 
 - 643-646 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2019-106649  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Biopsy<br/>Cell Cycle Proteins--genetics<br/>Child<br/>Child, Preschool<br/>DNA Helicases--genetics<br/>DNA Polymerase gamma--genetics<br/>DNA, Mitochondrial--genetics<br/>Female<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Kearns-Sayre Syndrome--genetics<br/>Male<br/>Mitochondria--genetics<br/>Mitochondrial Diseases--genetics<br/>Mitochondrial Proteins--genetics<br/>Muscle, Skeletal--metabolism<br/>Ophthalmoplegia, Chronic Progressive External--genetics<br/>Phenotype<br/>Point Mutation--genetics<br/>Ribonucleotide Reductases--genetics<br/>Thymidine Kinase