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Specialty: Hematology
Condition: Diabetes
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Macrocytosis in Mitochondrial DNA Deletion Syndromes
Acta Haematol. 2023 Feb 10. doi: 10.1159/000529311. Online ahead of print.ABSTRACTLarge single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [1-2]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy. Here, we describe a 62-year-old ...
Source: Acta Haematologica - February 12, 2023 Category: Hematology Authors: Farida Almarzooqi Hilary Vallance Michelle M Mezei Anna Lehman Gabriella Horvath Bojana Rakic Leslie Zypchen Andre Mattman Source Type: research
