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Example sentences for: narp

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MtDNA common point mutations (MELAS A3243G and T3271C, MERRF A8344G and T8356C, NARP T8993G and T8993C, cardiomyopathy G8363A, and LHON G11778A, G3460A, T14484C, and G14459A), deletions, or duplications, were not detected in blood or skeletal muscle.
Lower copy numbers of this mutation (~ 70%) are associated with neuropathy, ataxia and retinitis pigmentosa (NARP) whereas high copy numbers (>90%) give rise to Leigh syndrome [ 15].
It has been reported before that an increased excretion of orotate in sick children may not be uncommon and that a positive allopurinol load test may indicate unrecognized mitochondrial disease, making orotic acid as a potential marker of mitochondrial dysfunction [ 35 ] . A potential link between mitochondrial cytopathies and urea cycle dysfunction has also been suggested by the findings of hypocitrullinemia in patients with neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome (Mendelian Inheritance in Man database *551500) caused by a T8993G mutation in mtDNA that triggers ATPase deficiency [ 36 37 ] . It was hypothesized that the NARP mutation would cause complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
Neurogenic weakness, ataxia, and retinitis pigmentosa (NARP)