Words similar to mtdna
Example sentences for: mtdna
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Since no primary deleterious mtDNA mutation has been found in the proband and she was born to healthy parents with unremarkable family history, we hypothesize that the etiology of her mitochondrial dysfunction could reside in a still unidentified nuclear gene defect; although secondary mitochondrial dysfunction caused by an unknown inborn error of metabolism cannot be excluded completely.
A single T-to-G transversion at mtDNA position 8,993 changes leucine 156 of ATP synthase subunit 6 to arginine (Leu56 → Arg) [ 14] (Figure 4a).
There is also the need to examine groups with frequent (possibly cryptic) hybridization, recent radiations, and high rates of gene transfer from mtDNA to the nucleus.
Leber's hereditary optic neuropathy (LHON), the most common cause of male adolescent blindness, is attributed to mutations in mtDNA genes encoding subunits of complex I (NADH dehydrogenase (ND) - alternatively termed NADH CoQ 1 reductase).
Neuromuscular disorders were the first to be studied, and direct evidence of mitochondrial DNA (mtDNA) abnormalities was demonstrated in 1988 [ 1 2 ] . However, only 6% of the patients suspected of having mitochondrial disorders have been found to have mtDNA point mutations or deletions [ 3 ] . Most pediatric mitochondrial disorders are caused by defects in nuclear genes and with an autosomal recessive inheritance [ 4 ] . This case of neonatal mitochondrial dysfunction presenting with hyperammonemia and ventricular tachycardia expands the clinical spectrum of these disorders.
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