Chronic anemia as a manifestation of MELAS syndrome.
نویسنده
چکیده
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 POLG1.1 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 hypochrome, and microcytic anemia, has been only occasionally described.2-5
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عنوان ژورنال:
- Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
دوره 63 1 شماره
صفحات -
تاریخ انتشار 2011