Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation

@article{Schuelke2002SeptoopticDA,
  title={Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation},
  author={Markus Schuelke and Heiko Krude and B. Finckh and Ertan Mayatepek and Antoon J.M. Janssen and Michael Schmelz and Friedrich Trefz and Frans J. M. Trijbels and Jan A M Smeitink},
  journal={Annals of Neurology},
  year={2002},
  volume={51}
}
We report on a 25‐year‐old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo‐optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo‐optic dysplasia. Low α‐tocopherol concentrations in his muscles and an elevated urinary leukotriene E4 excretion indicate increased production of reactive… 
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References

SHOWING 1-10 OF 20 REFERENCES
A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
TLDR
Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene and a novel 4–base pair deletion was identified in 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes.
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
TLDR
The findings in this patient demonstrate the diagnostic value of immunocytochemistry in identifying specific respiratory-chain deficiencies and, potentially, distinguishing between nuclear- or mtDNA-encoded defects.
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
TLDR
Giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo is suggested.
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation
TLDR
A 16‐year‐old girl who died of prolonged pharmacoresistant EPC in whom a 7472insC mutation within the mitochondrial transfer ribonucleic acid (tRNA)Ser(UCN) was identified, revealing 100% mutant mitochondrial DNA in the patient, 4% in her mother, and none in her half‐sister.
Cerebellar hypoplasia in respiratory chain dysfunction.
TLDR
A girl with an encephalomyopathy likely to be due to a novel type of deficiency of cytochrome c oxidase (complex IV) activity is described that presented with severe hypotonia, myoclonic seizures, optic atrophy and elevated lactate concentration in cerebrospinal fluid shortly after birth.
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
TLDR
BCS1L mutations in six patients, from four unrelated families and presenting neonatal proximal tubulopathy, hepatic involvement and encephalopathy are reported, and implementation study in yeast confirmed the deleterious effect of these mutations.
Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
TLDR
This disease must have been the result of either a nuclear DNA mutation in a gene controlling the expression or assembly of both complex I and the muscle-specific isoform of complex IV or, alternatively, a heteroplasmic point mutations in a mitochondrial tRNA.
An out‐of‐frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production
TLDR
These findings, together with the variable tissue distribution of pathogenic mitochondrial DNA molecules, provide clues to the heterogeneous phenotypes associated with mitochondrial DNA mutations and establish a link between different forms of parkinsonism and oxidative phosphorylation defects.
Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?
TLDR
After reviewing the principles of mitochondrial genetics, the clinical and pathological features of disorders due to mutations in genes affecting mitochondrial protein synthesis with those of mutations in protein‐coding genes are compared.
Clinical heterogeneity in respiratory chain complex III deficiency in childhood
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