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Could it be mitochondrial? When and how to investigate

Correspondence to:
Correspondence to:
Patrick F Chinnery, Professor of Neurogenetics, Wellcome Trust Senior Fellow in Clinical Science, Mitochondrial Research Group, University of Newcastle upon Tyne & Honorary Consultant Neurologist, Department of Neurology, Regional Neurosciences Centre, Newcastle General Hospital, UK;
P.F.Chinnery@ncl.ac.uk

The first 150 words of the full text of this article appear below.

Mitochondrial disorders can present in many different ways—and not only to the neurologist. The general rule of thumb "multisystem? ... think mitochondrial" is a useful prompt, but it comes to mind all too often in routine neurological practice, particularly as the population continues to age and multiple pathologies become the norm in the neurology outpatient clinic. How can we sort out the "wheat from the chaff" in a simple and efficient way? Recent advances in molecular genetic testing have made it much easier to diagnose some mitochondrial disorders, but the broadening clinical phenotype presents new challenges. However, it is still important to rely on clinical judgement and not exclusively on the results of complicated and sometimes unreliable tests. If you really think it may be a mitochondrial disorder, do not give up at first base.

I will present a contemporary view on this difficult problem, a no nonsense guide for . . . [Full text of this article]