Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype by Danyang Li, Danyang Li, Chunmei Liang, Chunmei Liang, Tao Zhang, Jordan Lee Marley, Weiwei Zou, Weiwei Zou, Muqing Lian, Dongmei Ji, Dongmei Ji

Subjects: “…m.3243A>G…”
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Let's not blame cocaine as a cause of rhabdomyolysis until all other causes have been ruled out by Josef Finsterer, MD, PhD, Sounira Mehri, MD

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Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study by Dietrich Stoevesandt, Axel Schlitt, Philipp Röntgen, Torsten Kraya

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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underly... by Helin Zheng, Xuemei Zhang, Lu Tian, Bo Liu, Xiaoya He, Longlun Wang, Shuang Ding, Yi Guo, Jinhua Cai

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Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients by Ivo P. van de Peppel, Ivo P. van de Peppel, Serwet Demirdas, Behiye Özcan

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Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature by Lydia M. Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan

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Mitochondrial stroke-like episodes: The search for new therapies by Daniele Orsucci, Elena Caldarazzo Ienco, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso

Subjects: “…M.3243A>G…”
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Molecular genetic analysis of Type II diabetes associated m.3243A>G mitochondrial DNA mutation in a Pakistani family by Saidul Abrar, Khushi Muhammad, Hasnain Zaman, Suleman Khan, Faisal Nouroz, Nousheen Bibi

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A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation by Gönül Büyükyılmaz, Mihriban İnözü, Büşranur Çavdarlı

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Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology by J. Gass, H.K Atwal, P.S. Atwal

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Carriers of the m.3243A>G variant should not be labelled with an acronym before they have been systematically screened for multisystem disease by Josef Finsterer

Subjects: “…m.3243a>g…”
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Onset of MELAS due to the m.3243A>G mutation is early if the large phenotypic variability is considered by Josef Finsterer, Sinda Zarrouk-Mahjoub

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Fear of disease progression in carriers of the m.3243A > G mutation by José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen, Christianne Verhaak

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Complex I deficiency in m.3243A>G fibroblasts is alleviated by reducing NADH accumulation by Tongling Liufu, Haiyan Yu, Jiaxi Yu, Meng Yu, Yue Tian, Yichun Ou, Jianwen Deng, Jianwen Deng, Guogang Xing, Zhaoxia Wang, Zhaoxia Wang

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Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers by Jakob Høgild Langdahl, Anja Lisbeth Frederiksen, John Vissing, Morten Frost, Knud Bonnet Yderstræde, Per Heden Andersen

Subjects: “…mitochondrial DNA point mutation m.3243A>G…”
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Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A... by Toshiyuki Imasawa, Hiroshi Kitamura, Takehiko Kawaguchi, Yukiko Yatsuka, Yasushi Okazaki, Kei Murayama

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease by John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland

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Evaluation of the MDM-score system for screening mitochondrial diabetes mellitus in newly diagnosed diabetes patients: a multi-center cohort study in China by Fuhui Ma, Jing Zhao, Yan Chen, Yunzhi Luo, Yuxuan Du, Xia Li, Tao Xu, Zhiguang Zhou, Kaixin Zhou, Kaixin Zhou, Yanying Guo

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The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes by Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes, Mohamed Abid, Mouna Mnif, Faiza Fakhfakh

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Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant by Filipa Ferreira, Clara Gonçalves Bacelar, Pedro Lisboa-Gonçalves, Núria Paulo, Rita Quental, Ana Teresa Nunes, Roberto Silva, Isabel Tavares

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