A Muñoz-Málaga

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Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on(More)
Twenty-eight adult patients with mitochondrial disease were evaluated with muitimodal evoked potentials (EPs) to assess a possible CNS involvement The patients were classified into five groups: encephalopathy (two cases), progressive external ophthalmoplegia (PEO; four cases), pure myopatby (15 cases), cardiomyopathy (five cases) and asymptomatic relatives(More)
A patient developed an initially asymmetric sensory-motor neuropathy, with definite predominance in upper limbs. The examination also disclosed a markedly impaired muscle relaxation. The neurophysiological study showed conduction blocks with continuous muscle activity consisting of myokymias fasciculations and muscle cramps which disappeared after the(More)
INTRODUCTION Diffuse brain disease in systemic lupus erythematous (SLE) can be difficult to assess because of the sparse biological expression of the disorder, resulting in usually normal neuroimaging and laboratory findings. For this reason, it is likely that patients without a previous SLE diagnosis that presented initially with a pure psychiatric(More)
Four adults with proximal myopathy of mitochondrial origin but no ocular involvement are presented. Biochemical analysis showed combined complex III and IV deficits in the respiratory chain in all cases, suggesting an apparent correlation between clinical phenotype and biochemical findings. Mitochondrial DNA analysis of muscle from 1 patient failed to(More)
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