دورية أكاديمية
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
| العنوان: | Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) |
|---|---|
| المؤلفون: | Agostino A., Valletta L., Chinnery P. F., Ferrari G., Carrara F., Taylor R. W., Schaefer A. M., Turnbull D. M., Tiranti V., Zeviani M. |
| المساهمون: | Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., Schaefer, A. M., Turnbull, D. M., Tiranti, V., Zeviani, M. |
| بيانات النشر: | Lippincott Williams and Wilkins |
| سنة النشر: | 2003 |
| المجموعة: | Padua Research Archive (IRIS - Università degli Studi di Padova) |
| مصطلحات موضوعية: | Adenine Nucleotide Translocator 1, Adolescent, Adult, Amino Acid Sequence, Amino Acid Substitution, DNA Helicase, DNA Mutational Analysi, DNA Polymerase gamma, DNA Primase, DNA, Mitochondrial, DNA-Directed DNA Polymerase, England, Female, Genes, Recessive, Human, Italy, Male, Middle Aged, Mitochondrial Protein, Molecular Sequence Data, Mutation, Missense, Ophthalmoplegia, Chronic Progressive External, Point Mutation, Retrospective Studie, Sequence Alignment, Sequence Deletion |
| الوصف: | To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/12707443; info:eu-repo/semantics/altIdentifier/wos/WOS:000182489600027; volume:60; issue:8; firstpage:1354; lastpage:1356; numberofpages:3; journal:NEUROLOGY; http://hdl.handle.net/11577/3354386Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0037461342 |
| DOI: | 10.1212/01.WNL.0000056088.09408.3C |
| الإتاحة: | https://doi.org/10.1212/01.WNL.0000056088.09408.3CTest http://hdl.handle.net/11577/3354386Test |
| رقم الانضمام: | edsbas.E1F94252 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1212/01.WNL.0000056088.09408.3C |
|---|