Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. [electronic resource]
Producer: 20210708Description: 643-646 p. digitalISSN:- 1468-6244
- Adolescent
- Biopsy
- Cell Cycle Proteins -- genetics
- Child
- Child, Preschool
- DNA Helicases -- genetics
- DNA Polymerase gamma -- genetics
- DNA, Mitochondrial -- genetics
- Female
- Humans
- Infant
- Infant, Newborn
- Kearns-Sayre Syndrome -- genetics
- Male
- Mitochondria -- genetics
- Mitochondrial Diseases -- genetics
- Mitochondrial Proteins -- genetics
- Muscle, Skeletal -- metabolism
- Ophthalmoplegia, Chronic Progressive External -- genetics
- Phenotype
- Point Mutation -- genetics
- Ribonucleotide Reductases -- genetics
- Thymidine Kinase
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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