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- L Gignoux, T Maisonobe, P Laforet, A Lombès, O Lyon-Caen, and B Fontaine.
- Fédération de Neurologie des Prs. Agid et Lyon-Caen, Paris, Cedex, France.
- Rev Neurol France. 2001 Apr 1; 157 (4): 427-9.
AbstractWe report a case of a mitochondrial cytopathy (MERRF) with a late diagnosis because of the absence of Ragged-Red Fibers (RRF) in the first muscular biopsy performed in childhood. Eight years after the onset of the disease the familial history and the clinical manifestations were very suggestive of a mitochondrial cytopathy and a second biopsy was performed confirming the diagnosis of MERRF. The authors discuss several hypotheses to explain the negativity of the first muscular biopsy. The absence of ragged-red fibers does not exclude the diagnosis of a mitochondrial cytopathy and other investigations are justified such as the biochemical study of the respiratory chain and the molecular analysis of mitochondrial DNA.
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