Article
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].
Revue neurologique - 1 May 2014
Devaux-Bricout M, Grévent D, Lebre A-S, Rio M, Desguerre I, De Lonlay P, Valayannopoulos V, Brunelle F, Rötig A, Munnich A, Boddaert N
Abstract excerpt
Mitochondrial diseases are due to deficiency of the respiratory chain and are characterized by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Some clinical presentations are highly suggestive of given gene mutations, allowing rapid genetic diagnosis. However, owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their...
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