DO: 0112101;
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency mitochondrial type 1 (MC1DM1) is caused by mutation in the MTND3 gene (516002).
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Taylor et al. (2001) reported a 42-year-old man who had onset of migraine symptoms associated with flashing lights in his vision and right arm weakness at age 24 years. He subsequently developed myoclonus, seizures, cognitive decline, ataxia, peripheral neuropathy, eye movement abnormalities, and optic atrophy. Muscle biopsy showed a deficit (40% of controls) in complex I activity, but no ragged-red fibers.
McFarland et al. (2004) reported a patient with infantile encephalopathy and complex I deficiency. From birth, he was lethargic with hypotonia, areflexia, and muscle atrophy. Micrognathia and talipes equinovarus were noted.
In a patient with mitochondrial complex I deficiency, Taylor et al. (2001) identified a heteroplasmic 10191T-C transition in the MTND3 gene (516002.0001) in skeletal muscle (77%) and blood (14%), as well as in his mother (3% in blood) and 2 unaffected sibs (barely detectable in blood).
McFarland et al. (2004) identified a mutation in the MTND3 gene (516002.0001) in a patient with infantile encephalopathy and complex I deficiency.
McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann. Neurol. 55: 58-64, 2004. [PubMed: 14705112] [Full Text: https://doi.org/10.1002/ana.10787]
Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E. M., Turnbull, D. M. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann. Neurol. 50: 104-107, 2001. [PubMed: 11456298] [Full Text: https://doi.org/10.1002/ana.1084]