Affiliation: University of Munich
- Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletionsFritz Georg Lehnhardt
Department of Neurology, University of Cologne, Koln, Germany
Arch Neurol 65:407-11. 2008..To determine the involvement of cerebral metabolism in 2 siblings with mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE)-like disease with multiple mitochondrial DNA (mtDNA) deletions...
- Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALysRita Horvath
Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany
Neurology 68:56-8. 2007..Similar to previously reported patients with parkinsonism and mtDNA deletions, the symptoms of our patient responded favorably to levodopa therapy...
- Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)R Horvath
Metabolic Disease Centre Munich Schwabing, Institute of Clinical Chemistry, Academic Hospital Schwabing, Kolner Platz 1, 80804 Munich, Germany
J Neurol Neurosurg Psychiatry 77:74-6. 2006..In six additional patients--five with Leigh or Leigh-like syndrome and one with neuropathy and ataxia associated with isolated deficiency of complex II--mutations in SDHA were not detected, indicating genetic heterogeneity...
- Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathyR Horvath
Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Kolner Platz 1, 80804 Munich, Germany
Neuromuscul Disord 15:851-7. 2005..Our report of two patients with isolated COX deficiency and new mutations in COX subunit genes may help to draw more attention to this type of mtDNA defects and provide new aspects for counselling affected families...
- Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismR Horvath
Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Munich, Germany
J Inherit Metab Dis 28:479-92. 2005..Remarkable improvement of clinical symptoms was observed, with complete restoration of cytochrome-c oxidase activity in skeletal muscle...
- Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficienciesM Jaksch
Metabolic Disease Centre Munich Schwabing and Institute of Clinical Chemistry, Diagnostic Molecular Biology, and Mitochondrial Genetics, Munich, Germany
J Med Genet 38:665-73. 2001..To evaluate the frequency of pathogenic mtDNA transfer RNA mutations and deletions in biochemically demonstrable respiratory chain (RC) deficiencies in paediatric and adult patients...
- Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblastsM Jaksch
Metabolic Disease Centre Munich Schwabing, Koelner Platz 1, 80804 Munich, Germany
Hum Mol Genet 10:3025-35. 2001..Whatever the mechanism, this result suggests a possible therapy for the early treatment of this fatal infantile disease...
- Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisitedB G H Schoser
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
Neuropathol Appl Neurobiol 33:544-59. 2007..These findings may have implications for our understanding of the pathogenesis of GSD2 and for assessing therapeutic success of enzyme replacement therapy...
- Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?P Freisinger
Metabolic Disease Center, Munich Schwabing, Children s Hospital and Institute of Medical Genetics, Technical University, Munich, Germany
J Inherit Metab Dis 27:67-79. 2004..Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu-his...
- Coenzyme Q10 deficiency and isolated myopathyR Horvath
Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany
Neurology 66:253-5. 2006..Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK...
- Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathyM Jaksch
Metabolic Disease Centre Munich, Germany
Neurology 57:1440-6. 2001..To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2...
- Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiencyR Horvath
Metabolic Disease Centre Munich, Institute of Clinical Chemistry, Munich, Germany
Biochem Biophys Res Commun 276:530-3. 2000..We conclude that neither SCO1 nor COX17 are common causes of COX deficiency disorders...
- Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsWolfgang Müller-Felber
Haunersche Kinderklinik, Childrens Hospital, Ludwig Maximilians University, Lindwurmstr 4, 80337 Munich, Germany
Neuromuscul Disord 17:698-706. 2007..Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease...
- The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneKlaus Gempel
Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics Academic Hospital Schwabing, Munich, Germany
Brain 130:2037-44. 2007..We suggest to give patients both CoQ10 and riboflavin supplementation, especially for long-term treatment...
- Progressive chronic inflammatory demyelinating polyneuropathy in a child with central nervous system involvement and myopathyNina Barisic
Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
Coll Antropol 30:945-9. 2006..Demyelination might develop in central and peripheral nervous system associated with inflammatory myopathy in patients with progressive course of CIDP...
- The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasisScot C Leary
Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada
Cell Metab 5:9-20. 2007..These results suggest a mitochondrial pathway for the regulation of cellular copper content that involves signaling through SCO1 and SCO2, perhaps by their thiol redox or metal-binding state...
- Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann
Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
Am J Hum Genet 79:303-12. 2006....
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath
Metabolic Diseases Centre, Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
Brain 129:1674-84. 2006..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...
- Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderGavin Hudson
Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
Am J Hum Genet 77:1086-91. 2005..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
- Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndromePetri T Luoma
Programme of Neurosciences, Biomedicum Helsinki, Helsinki University, Finland
Hum Mol Genet 14:1907-20. 2005....
- Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyHana Antonicka
Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, H3A 2B4, Canada
Hum Mol Genet 12:2693-702. 2003..This study shows that mutations in this gene can cause nearly the full range of clinical phenotypes associated with early onset isolated COX deficiency...