Prevalence and progression of mitochondrial diseases: a study of 50 patients.

Department of Neurology, La Paz Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain.
Muscle & Nerve (Impact Factor: 2.31). 12/2003; 28(6):690-5. DOI: 10.1002/mus.10507
Source: PubMed

ABSTRACT We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.

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    Laboratorio y Enfermedad: Casos Clínicos Vol.2, 1st edited by Asociación Española de Biopatología Médica, 10/2010: chapter Caso 12: pages 88-94; , ISBN: 978-84-614-3808-2
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