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Editorial

Mitochondrial Disease: Learning From Charlie’s lesson, Trying to cure, Trying Much More to Care

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Pages 273-276 | Received 01 Jan 2018, Accepted 23 Mar 2018, Published online: 27 Jun 2018

References

  • Munnich A , RötigA, ChretienDet al. Clinical presentation of mitochondrial disorders in childhood . J. Inherit. Metab. Dis.19 ( 4 ), 521 – 527 ( 1996 ).
  • Luft R , IkkosD, PalmieriG, ErnsterL, AfzeliusB . A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study . J. Clin. Invest.41 ( 9 ), 1776 – 1804 ( 1962 ).
  • Holt IJ , HardingAE, Morgan-HughesJA . Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies . Nature331 ( 6158 ), 717 – 719 ( 1988 ).
  • Alston CL , RochaMC, LaxNZ, TurnbullDM, TaylorRW . The genetics and pathology of mitochondrial disease . J. Pathol.241 ( 2 ), 236 – 250 ( 2017 ).
  • Vandebona H , MitchellP, ManwaringNet al. Prevalence of mitochondrial 1555A→G mutation in adults of European descent . N. Engl. J. Med.360 ( 6 ), 642 – 644 ( 2009 ).
  • Glover EI , MartinJ, MaherA, ThornhillRE, MoranGR, TarnopolskyMA . A randomized trial of coenzyme Q10 in mitochondrial disorders . Muscle Nerve42 ( 5 ), 739 – 748 ( 2010 ).
  • Meyers DE , BashaHI, KoenigMK . Mitochondrial cardiomyopathy: pathophysiology, diagnosis and management . Tex. Heart Inst. J.40 ( 4 ), 385 – 394 ( 2013 ).
  • Limongelli G , Tome-EstebanM, DejthevapornC, RahmanS, HannaMG, ElliottPM . Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease . Eur. J. Heart Fail.12 ( 2 ), 114 – 121 ( 2010 ).
  • Limongelli G , MasaroneD, D’AlessandroR, ElliottPM . Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course . Future Cardiol.8 ( 1 ), 71 – 88 ( 2012 ).
  • Limongelli G , MasaroneD, PacileoG . Mitochondrial disease and the heart . Heart103 ( 5 ), 390 – 398 ( 2017 ).
  • Wahbi K , BougouinW, BéhinAet al. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases . Eur. Heart J.36 ( 42 ), 2886 – 2893 ( 2015 ).
  • Page RL , JoglarJA, CaldwellMAet al. Evidence Review committee chair. 2015 ACC/AHA/HRS guideline for the management of adult patients with Supraventricular Tachycardia: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society . Circulation133 ( 14 ), e471 – e505 ( 2016 ).
  • Golden AS , LawYM, ShurtleffH, WarnerM, SanetoRP . Mitochondrial electron transport chain deficiency, cardiomyopathy and long-term cardiac transplant outcome . Pediatr. Transplant.16 ( 3 ), 265 – 268 ( 2012 ).
  • Anonymous . It was our agonising job as Charlie Gard’s care team to say: enough . The Guardian ( 2017 ). www.theguardian.com/uk-news/commentisfree/2017/aug/04/it-was-our-agonising-job-as-charlie-gard-care-team-to-say-enough .

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