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Scientific article
French

L'interniste face aux maladies rares : quand y penser ? L'exemple des maladies mitochondriales

Published inRevue médicale suisse, vol. 13, no. 546, p. 159-163
Publication date2017
Abstract

Rare Diseases, defined by a prevalence of less than 1 per 2000 persons, affect 36 million people in Europe, 500 000 in Switzerland, corresponding to 6-8% of the general population. 7000 rare diseases are currently recorded.Mitochondrial diseases are a heterogeneous group of genetic diseases. They are characterized by intracellular failure of energy production and affect predominantly energy-dependent tissues. The clinical presentation is not always suggestive, particularly in adulthood. In order to reach the diagnosis, a prerequisite is to think of them. In this article, we will focus on the clinical aspects of mitochondrial disorders in order to give the internist simple tools on how not to miss those rare diseases in his daily practice.

Citation (ISO format)
TRAN, Christel et al. L’interniste face aux maladies rares : quand y penser ? L’exemple des maladies mitochondriales. In: Revue médicale suisse, 2017, vol. 13, n° 546, p. 159–163.
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ISSN of the journal1660-9379
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