Article
Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report.
Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Apr 2022
Noorian Shahab, Mohammadpoor Nami Sahar, Nouri Ghonbalani Zahra, Mohammadian Khonsari Nami
Abstract excerpt
Mitochondrion regulates cellular metabolism with the aid of its respiratory complexes; any defect within these complexes can result in mitochondrial malfunction and various conditions. One such mutation can occur in SLC25A10, resulting in mitochondrial DNA depletion syndrome. It should be noted that the pattern of inheritance of this syndrome is autosomal recessive. However, we present a case with compound...
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