A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
- 1 September 2003
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 13 (7-8) , 568-572
- https://doi.org/10.1016/s0960-8966(03)00071-3
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegiaNeuromuscular Disorders, 2003
- The V368I mutation in Twinkle does not segregate with adPEOAnnals of Neurology, 2003
- The neurology of mitochondrial DNA diseaseThe Lancet Neurology, 2002
- Clinical and molecular features of adPEO due to mutations in the Twinkle geneJournal of the Neurological Sciences, 2002
- Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCRNucleic Acids Research, 2002
- Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletionsNature Genetics, 2001
- Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriaNature Genetics, 2001
- Diseases caused by nuclear genes affecting mtDNA stabilityAmerican Journal of Medical Genetics, 2001
- Role of Adenine Nucleotide Translocator 1 in mtDNA MaintenanceScience, 2000
- Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseasesMuscle & Nerve, 1995