Maria-Mirta Rodriguez

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Desmin myopathy is a heterogeneous neuromuscular disorder characterized by skeletal myopathy and cardiomyopathy, inherited mostly in an autosomal dominant pattern. We report a five generation Uruguayan family with severe cardiomyopathy and skeletal myopathy. Its most striking features are: atrial dilation, arrhythmia, conduction block and sudden death due(More)
Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from isolated hyperCKemia to severe functional disability. Symptomatology begins in the posterior muscle compartment of the calf and its clinical course progresses(More)
Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the CNS. Although, MS is well characterized in terms of the role played by immune cells, cytokines and CNS pathology, nothing is known about the metabolic alterations that occur during the disease process in circulation. Recently, metabolic aberrations have been defined in(More)
Paracoccidioidomycosis (PCM) is a systemic mycosis caused by a dimorphic fungus. The fungus Paracoccidioides brasiliensis lives in the ground and on plants in tropical and subtropical regions. It is endemic to South America and is the most common of the deep mycoses in Paraguay. Infection occurs by the inhalation of spores during the first decades of life;(More)
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