Finsterer J

Language: English
References: 12
Page: 100-103
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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.2 Involvement of the bone marrow, manifesting as hy- pochrome, and microcytic anemia, has been only occasionally described.

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