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Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 24, 2013 - Issue 1
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Short Communication

A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy

Mari Maki Siria Godoy CardenaDepartment of Legal Medicine, Ethics and Occupational Health, Medical School, University of São Paulo, São Paulo, Brazil
,
Alfredo José MansurLaboratory of Genetics and Molecular Cardiology, Department of Cardiology, Medical School, Heart Institute, University of São Paulo, São Paulo, Brazil
,
Alexandre Da Costa PereiraLaboratory of Genetics and Molecular Cardiology, Department of Cardiology, Medical School, Heart Institute, University of São Paulo, São Paulo, Brazil
&
Cintia FridmanDepartment of Legal Medicine, Ethics and Occupational Health, Medical School, University of São Paulo, São Paulo, BrazilCorrespondence[email protected]
Pages 46-49 | Received 24 May 2012, Accepted 27 Jul 2012, Published online: 07 Sep 2012

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Josef Finsterer & Sinda Zarrouk-Mahjoub. (2017) Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders. Neuropsychiatric Disease and Treatment 13, pages 2569-2579.
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Articles from other publishers (12)

Elena Ghirigato, Francesca Terenzi, Mirko Baglivo, Nadia Zanetti, Francesco Baldo, Flora Maria Murru, Marco Bobbo, Egidio Barbi, Massimo Zeviani, Irene Bruno & Eleonora Lamantea. (2023) A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro. Neuromuscular Disorders.
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Yosur G. Fiteha & Mahmoud Magdy. (2022) The Evolutionary Dynamics of the Mitochondrial tRNA in the Cichlid Fish Family. Biology 11:10, pages 1522.
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Lee-Jun C. Wong, Ting Chen, Jing Wang, Sha Tang, Eric S. Schmitt, Megan Landsverk, Fangyuan Li, Yue Wang, Shulin Zhang, Victor Wei Zhang & William J. Craigen. (2020) Interpretation of mitochondrial tRNA variants. Genetics in Medicine 22:5, pages 917-926.
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Pushpa Raj Joshi, Karen Baty, Sila Hopton, Isabell Cordts, Gavin Falkous, Benedikt Schoser, Emma L. Blakely, Robert W. Taylor & Marcus Deschauer. (2020) Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant. Neuromuscular Disorders 30:4, pages 346-350.
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Miriam Umbria, Amanda Ramos, Maria Pilar Aluja & Cristina Santos. (2020) The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction. Scientific Reports 10:1.
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Josef Finsterer & Sinda Zarrouk-Mahjoub. (2017) Mitochondrial disorders due to tRNA(Pro) mutations. Neuromuscular Disorders 27:8, pages 791.
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Joanna Poulton, Josef Finsterer & Patrick Yu-Wai-Man. (2017) Genetic Counselling for Maternally Inherited Mitochondrial Disorders. Molecular Diagnosis & Therapy 21:4, pages 419-429.
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Emna Mkaouar-Rebai, Rahma Felhi, Mouna Tabebi, Olfa Alila-Fersi, Imen Chamkha, Marwa Maalej, Marwa Ammar, Fatma Kammoun, Leila Keskes, Mongia Hachicha & Faiza Fakhfakh. (2016) Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders. Biochemical and Biophysical Research Communications 473:2, pages 578-585.
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Catherine Brunel-Guitton, Alina Levtova & Florin Sasarman. (2015) Mitochondrial Diseases and Cardiomyopathies. Canadian Journal of Cardiology 31:11, pages 1360-1376.
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Suli Zhang, Zhongmei He, Jin Wang, Li Wang, Ye Wu, Jie Wang, Tingting Lv & Huirong Liu. (2015) Mitochondrial Ultrastructural Alterations and Declined M2 Receptor Density Were Involved in Cardiac Dysfunction in Rats after Long Term Treatment with Autoantibodies against M2 Muscarinic Receptor. PLOS ONE 10:6, pages e0129563.
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Maria J. Guillen Sacoto, Kimberly A. Chapman, Deneen Heath, Mary Beth Seprish & Dina J. Zand. (2015) An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine. Molecular Genetics and Metabolism Reports 3, pages 47-54.
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Jie Wang, Fei Lin, Li-li Guo, Xing-jiang Xiong & Xun Fan. (2015) Cardiovascular Disease, Mitochondria, and Traditional Chinese Medicine. Evidence-Based Complementary and Alternative Medicine 2015, pages 1-7.
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