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Introduction Myopathy, encephalopathy, lactacidosis and stroke-like episodes (MELAS)-syndrome is a heterogeneous respiratory-chain-disorder (RCD) due to point mutations in mitochondrial genes (m.583G>A, m.1642G>A, m.3243A>G, m.3252A>G, m.3260A >G, m.3271T>C, m.3291T>C, m.5814A>G, m.9957T>C, m.13513G>A), due to mtDNA deletions, or due to nDNA mutations, such as in POLG1. Like most of the RCDs, MELAS is a multi-system disease, involving the brain, peripheral nervous-system, eyes, endocrine glands, heart, guts, kidney, or dermis. Involvement of the bone marrow, manifesting as hypochrome, and microcytic anemia, has been only occasionally described.

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2011-03-07   |   1,290 visitas   |   Evalua este artículo 0 valoraciones

Vol. 63 Núm.1. Enero-Febrero 2011 Pags. 100-103 Rev Invest Clin 2011; 63(1)