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Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 25, 2014 - Issue 5
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Full length Research Papers

A novel MT-CO2 m.8249G > A pathogenic variation and the MT-TW m.5521G > A mutation in patients with mitochondrial myopathy

Emna Mkaouar-RebaiLaboratory of Human Molecular Genetics, Faculty of Medicine, University of SfaxTunisiaCorrespondence[email protected] [email protected]
,
Afif Ben MahmoudLaboratory of Human Molecular Genetics, Faculty of Medicine, University of SfaxTunisia
,
Imen ChamkhaLaboratory of Human Molecular Genetics, Faculty of Medicine, University of SfaxTunisia
,
Imen ChabchoubService de Pédiatrie, C.H.U. Habib Bourguiba de SfaxTunisia
,
Thouraya KammounService de Pédiatrie, C.H.U. Habib Bourguiba de SfaxTunisia
,
Mongia HachichaService de Pédiatrie, C.H.U. Habib Bourguiba de SfaxTunisia
&
Faiza FakhfakhLaboratory of Human Molecular Genetics, Faculty of Medicine, University of SfaxTunisia
 show all
Pages 394-399 | Received 07 Apr 2013, Accepted 03 May 2013, Published online: 10 Jul 2013

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Anastasia I Ryzhkova, Margarita A Sazonova, Vasily V Sinyov, Elena V Galitsyna, Mariya M Chicheva, Alexandra A Melnichenko, Andrey V Grechko, Anton Yu Postnov, Alexander N Orekhov & Tatiana P Shkurat. (2018) Mitochondrial diseases caused by mtDNA mutations: a mini-review. Therapeutics and Clinical Risk Management 14, pages 1933-1942.
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Articles from other publishers (5)

Yu Ding, Beibei Gao & Jinyu Huang. (2022) Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations. Journal of Clinical Medicine 11:21, pages 6431.
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Asif Sukri, Mohd Nur Fakhruzzaman Noorizhab, Lay Kek Teh & Mohd Zaki Salleh. (2022) Insight of the mitochondrial genomes of the Orang Asli and Malays: The heterogeneity and the disease-associated variants. Mitochondrion 62, pages 74-84.
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Wei Wang, Yuan Sun, Yan Lin, Xuebi Xu, Dandan Zhao, Kunqian Ji, Wei Li, Yuying Zhao & Chuanzhu Yan. (2021) A novel nonsense variant in MT-CO3 causes MELAS syndrome. Neuromuscular Disorders 31:6, pages 558-565.
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Balan Louis Gaspar, Rakesh Kumar Vasishta & Bishan Dass RadotraBalan Louis Gaspar, Rakesh Kumar Vasishta & Bishan Dass Radotra. 2019. Myopathology. Myopathology 165 200 .
Josef Finsterer, Sinda Zarrouk-Mahjoub & John M. Shoffner. (2018) MERRF Classification: Implications for Diagnosis and Clinical Trials. Pediatric Neurology 80, pages 8-23.
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