J Vissing

Summary

Affiliation: Copenhagen University Hospital
Country: Denmark

Publications

  1. ncbi request reprint Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation
    Tina D Jeppesen
    Copenhagen Muscle Research Center, Department of Neurology and Neuromuscular Research Unit, DK 2100 Copenhagen, Denmark
    Arch Neurol 63:1701-6. 2006
  2. doi request reprint Effect of oral sucrose shortly before exercise on work capacity in McArdle disease
    Susanne Tvede Andersen
    Neuromuscular Research Unit, Department of Neurology, and Copenhagen Muscle Research Center, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Arch Neurol 65:786-9. 2008
  3. doi request reprint Diagnosis of Pompe disease: muscle biopsy vs blood-based assays
    John Vissing
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK 2100 Copenhagen, Denmark
    JAMA Neurol 70:923-7. 2013
  4. doi request reprint Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene
    Christoffer Rasmus Vissing
    Rigshospitalet, University of Copenhagen, Denmark
    Neurology 80:1908-10. 2013
  5. doi request reprint Mechanisms of exertional fatigue in muscle glycogenoses
    John Vissing
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Neuromuscul Disord 22:S168-71. 2012
  6. pmc Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies
    Simon Hauerslev
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Center, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    BMC Musculoskelet Disord 13:43. 2012
  7. pmc The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease
    J Vissing
    Copenhagen Muscle Research Centre, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Physiol 537:641-9. 2001
  8. ncbi request reprint Multiple mtDNA deletions with features of MNGIE
    J Vissing
    Department of Neurology and the Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 59:926-9. 2002
  9. ncbi request reprint A diagnostic cycle test for McArdle's disease
    John Vissing
    Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 54:539-42. 2003
  10. doi request reprint Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease
    John Vissing
    Department of Neurology 2082, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    Brain 132:1545-52. 2009

Collaborators

Detail Information

Publications80

  1. ncbi request reprint Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation
    Tina D Jeppesen
    Copenhagen Muscle Research Center, Department of Neurology and Neuromuscular Research Unit, DK 2100 Copenhagen, Denmark
    Arch Neurol 63:1701-6. 2006
    ..Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling...
  2. doi request reprint Effect of oral sucrose shortly before exercise on work capacity in McArdle disease
    Susanne Tvede Andersen
    Neuromuscular Research Unit, Department of Neurology, and Copenhagen Muscle Research Center, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Arch Neurol 65:786-9. 2008
    ..Oral sucrose (75 g) ingested 40 minutes before exercise improves exercise tolerance in McArdle disease...
  3. doi request reprint Diagnosis of Pompe disease: muscle biopsy vs blood-based assays
    John Vissing
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK 2100 Copenhagen, Denmark
    JAMA Neurol 70:923-7. 2013
    ..Increased awareness of the clinical phenotype of Pompe disease is therefore warranted to expedite diagnostic screening for this condition with blood-based enzymatic assays. ..
  4. doi request reprint Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene
    Christoffer Rasmus Vissing
    Rigshospitalet, University of Copenhagen, Denmark
    Neurology 80:1908-10. 2013
    ..This led to treatment with riboflavin (100 mg/day for 3 years), again without effect. Clinical examination, including echocardiography, revealed no signs of involvement from other organs, and all relatives were asymptomatic...
  5. doi request reprint Mechanisms of exertional fatigue in muscle glycogenoses
    John Vissing
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Neuromuscul Disord 22:S168-71. 2012
    ....
  6. pmc Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies
    Simon Hauerslev
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Center, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    BMC Musculoskelet Disord 13:43. 2012
    ..Calpain 3 is suggested to be involved in maturation of contractile elements after muscle degeneration. The aim of this study was to investigate how mutations in the four functional domains of calpain 3 affect muscle regeneration...
  7. pmc The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease
    J Vissing
    Copenhagen Muscle Research Centre, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Physiol 537:641-9. 2001
    ..This suggests that muscle acidification and changes in interstitial ammonia concentration are not mediators of sympathetic activation during exercise...
  8. ncbi request reprint Multiple mtDNA deletions with features of MNGIE
    J Vissing
    Department of Neurology and the Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 59:926-9. 2002
    ..The condition resembles mitochondrial neurogastrointestinal encephalomyopathy, except for the absence of leukoencephalopathy, and is likely caused by a nuclear DNA mutation that disrupts intergenomic signaling...
  9. ncbi request reprint A diagnostic cycle test for McArdle's disease
    John Vissing
    Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 54:539-42. 2003
    ..The findings indicate that cycling at a moderate, constant workload provides a specific, sensitive, and simple diagnostic test for McArdle's disease...
  10. doi request reprint Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease
    John Vissing
    Department of Neurology 2082, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    Brain 132:1545-52. 2009
    ..The milder form of McArdle disease provides important clues to the level of functional myophosphorylase needed to support muscle oxidative metabolism...
  11. ncbi request reprint Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency
    John Vissing
    Copenhagen Muscle Research Center, National University Hospital, Denmark
    Arch Neurol 62:1440-3. 2005
    ....
  12. ncbi request reprint [Diagnosis of muscular disease]
    J Vissing
    Neurologisk afdeling, H S Rigshospitalet
    Ugeskr Laeger 162:2173-7. 2000
    ..The role of the clinical examination, genetic and serological tests, neurophysiological examination, muscle imaging, muscle histology and exercise tests for the diagnosis of muscle disease are discussed...
  13. ncbi request reprint The effect of oral sucrose on exercise tolerance in patients with McArdle's disease
    John Vissing
    Department of Neurology and the Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    N Engl J Med 349:2503-9. 2003
    ..We hypothesized that ingesting sucrose before exercise would increase the availability of glucose and would therefore improve exercise tolerance in patients with McArdle's disease...
  14. ncbi request reprint Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis
    J Vissing
    Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 49:672-6. 2001
    ..This indicates that lactate acidosis is not the primary cause of exercise intolerance in MM...
  15. doi request reprint Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
    N Preisler
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, Denmark
    Neurology 78:265-8. 2012
    ..To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD)...
  16. doi request reprint Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity
    S T Andersen
    Department of Neurology 2082, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 79:1359-63. 2008
    ..In healthy subjects, proteins contribute very little to energy metabolism during exercise, which questions the effect of protein in McArdle disease...
  17. doi request reprint Short- and long-term effects of endurance training in patients with mitochondrial myopathy
    T D Jeppesen
    Neuromuscular Research Unit, Department of Neurology, and The Copenhagen Muscle Research Centre, Copenhagen, Denmark
    Eur J Neurol 16:1336-9. 2009
    ..It is unknown whether prolonged training is a safe treatment to alleviate exercise intolerance in patients with mitochondrial DNA (mtDNA) mutations...
  18. doi request reprint Fat metabolism during exercise in patients with McArdle disease
    M C Ørngreen
    Neuromuscular Research Unit, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Neurology 72:718-24. 2009
    ..We questioned whether patients with McArdle disease can compensate for the blocked muscle glycogen breakdown by enhancing fat oxidation during exercise...
  19. doi request reprint Muscle regeneration in mitochondrial myopathies
    T O Krag
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK 2100 Copenhagen, Denmark
    Mitochondrion 13:63-70. 2013
    ..The results add to the complexity of the pathogenesis underlying mitochondrial myopathies, and expand the knowledge about the impact of energy deficiency on another aspect of muscle structure and function...
  20. doi request reprint Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
    M C Ørngreen
    Neuromuscular Research Unit 7611, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Neurology 70:1876-82. 2008
    ....
  21. doi request reprint Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)
    N Preisler
    Neuromuscular Research Unit 3342, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Neurology 72:317-23. 2009
    ..This defect causes motor neuron death, but considering the important function of androgens in muscle, it is possible that muscle damage in SBMA also occurs independently of motor neuron damage...
  22. doi request reprint Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation
    K L Madsen
    Neuromuscular Research Unit 3342, Rigshospitalet, University of Copenhagen, DK 2100 Copenhagen E, Denmark
    J Clin Endocrinol Metab 98:1667-75. 2013
    ..The use of carnitine supplementation in MCADD cannot be supported by the present findings...
  23. ncbi request reprint Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency
    M C Ørngreen
    Neuromuscular Research Unit, The Copenhagen Muscle Research Center and the Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 69:313-5. 2007
  24. doi request reprint Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2
    N Witting
    Neuromuscular Research Unit and Department of Neurology 2082, University of Copenhagen, Rigshospitalet, Blegdamsvej, DK 2100 Copenhagen, Denmark
    Neuromuscul Disord 23:25-8. 2013
    ..We suggest that this unusual phenotype is caused by translation re-initiation downstream from the mutation site...
  25. doi request reprint Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy
    S Hauerslev
    Neuromuscular Research Unit, Department of Neurology, Rigs Hospitalet, University of Copenhagen, Copenhagen, Denmark
    Acta Neurol Scand 128:194-201. 2013
    ..Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A...
  26. ncbi request reprint Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency
    J Vissing
    Department of Neurology N, National University Hospital, Rigshospitalet
    Neurology 47:766-71. 1996
    ..The responses are probably initiated by neural feedback elicited by disturbances in local muscle metabolism. The responses promote delivery of oxidizable fat to muscle, but at the expense of accumulation and futile cycling of glucose...
  27. ncbi request reprint Lack of IL-6 production during exercise in patients with mitochondrial myopathy
    A Steensberg
    Department of Infectious Diseases, Rigshospitalet, Afs. 7641, Tagensvej 20, 2200 Copenhagen, Denmark
    Eur J Appl Physiol 84:155-7. 2001
    ..05). Given that IL-6 is a cytokine with growth-promoting potential, the results of this study suggest that high lactate production contributes to the decreased muscle function observed in MM patients by inhibiting the production of IL-6...
  28. doi request reprint Endocrine function in 97 patients with myotonic dystrophy type 1
    M C Ørngreen
    Neuromuscular Research Unit 3342, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark
    J Neurol 259:912-20. 2012
    ..However, the endocrine dysfunction appears not to be of clinical significance in all of the cases. Finally, we found correlations between CTG(n) expansion size and plasma PTH, phosphate, and testosterone, and neck flexion strength...
  29. ncbi request reprint Endurance training: an effective and safe treatment for patients with LGMD2I
    M L Sveen
    Department of Neurology 2082, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Neurology 68:59-61. 2007
    ..Creatine kinase levels did not increase significantly, and muscle morphology was unaffected. Moderate-intensity endurance training is a safe method to increase exercise performance and daily function in patients with LGMD2I...
  30. ncbi request reprint Patients with severe muscle wasting are prone to develop hypoglycemia during fasting
    M C Ørngreen
    Department of Neurology, The Copenhagen Muscle Research Center, Copenhagen, Denmark
    Neurology 61:997-1000. 2003
    ..Skeletal muscle is an important source of gluconeogenic substrates during fasting. Hypoglycemia must be considered in patients with low muscle mass, especially during surgery and febrile episodes...
  31. doi request reprint A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy
    M Riisager
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark
    Neuromuscul Disord 23:562-7. 2013
    ....
  32. doi request reprint No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations
    L E Hjermind
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 15:525-9. 2008
    ..This suggests a different role of the sarcoglycan complex epsilonbetagammadelta versus alphabetagammadelta complex in humans, as earlier suggested in rodents...
  33. ncbi request reprint Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy
    D B Olsen
    Department of Neurology, The MS Clinic, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark
    Eur J Neurol 7:567-71. 2000
    ..The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are discussed...
  34. ncbi request reprint Lactic acid accumulation is an advantage/disadvantage during muscle activity
    John Vissing
    J Appl Physiol 100:2101. 2006
  35. ncbi request reprint Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
    Tina D Jeppesen
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Centre, Rigshospitalet, Copenhagen, Denmark
    Brain 129:3402-12. 2006
    ..Regular, supervised aerobic exercise is therefore recommended in MM patients with the studied mutations...
  36. ncbi request reprint Autosomal dominant monosymptomatic myotonia permanens
    Eskild Colding-Jørgensen
    Department of Clinical Neurophysiology, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark
    Neurology 67:153-5. 2006
    ..The authors report a family in which the disease is autosomal dominantly inherited. The patients have severe myotonia, but the clinical picture is not qualitatively different from that seen in other nondystrophic myotonias...
  37. ncbi request reprint Aerobic conditioning: an effective therapy in McArdle's disease
    Ronald G Haller
    Neuromuscular Center, Institute for Exercise and Environmental Medicine of Presbyterian Hospital, Dallas, TX 75231, USA
    Ann Neurol 59:922-8. 2006
    ..However, physical inactivity may worsen exercise intolerance by further reducing the limited oxidative capacity caused by blocked glycogenolysis. We investigated whether aerobic conditioning can safely improve exercise capacity in MD...
  38. ncbi request reprint Deletion of exon 16 of the dystrophin gene is not associated with disease
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital, Copenhagen, Denmark
    Hum Mutat 28:205. 2007
    ..The findings suggest that even large gene re-arrangements of the dystrophin gene may not always be disease-causing, and caution a diagnosis of dystrophinopathy in sporadic cases of single exon in-frame deletions...
  39. ncbi request reprint 31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy
    Tina Dysgaard Jeppesen
    Neuromuscular Research Unit, Section 7611, National University Hospital, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark
    J Neurol 254:29-37. 2007
    ..Thus, (31)P-MRS should not be a routine test for MM, but may be an important research tool...
  40. ncbi request reprint Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Brain 130:853-61. 2007
    ....
  41. ncbi request reprint A nonischemic forearm exercise test for McArdle disease
    Pedram Kazemi-Esfarjani
    The Copenhagen Muscle Research Center, Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 52:153-9. 2002
    ..No patient experienced cramps in the non-ischemic test, and all completed the test. The findings indicate that the diagnostic ischemic forearm test for glycolytic disorders should be replaced by an aerobic forearm test...
  42. doi request reprint cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
    Morten Duno
    Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Eur J Hum Genet 16:935-40. 2008
    ..The present study demonstrates the value of cDNA analysis for CAPN3 in LGMD2A patients and indicates that calpainopathy is an uncommon cause of LGMD in the Denmark...
  43. doi request reprint Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
    Tina D Jeppesen
    Department of Neurology, The Neuromuscular Research Unit and The Copenhagen Muscle Research Centre, Section 7611, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Neuromuscul Disord 18:306-9. 2008
    ..In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons...
  44. ncbi request reprint High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    Marie Louise Sveen
    Department of Neurology, Neuromuscular Research Unit, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 59:808-15. 2006
    ..The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this and the genotype-phenotype relation in LGMD2I...
  45. ncbi request reprint [Patient demographics and evaluation of examinations in a neuromuscular clinic over a three-year period]
    Mikkel Anthonisen
    H S Rigshospitalet, Neurologisk Klinik 2082
    Ugeskr Laeger 167:2405-8. 2005
  46. ncbi request reprint New patterns of inheritance in mitochondrial disease
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Biochem Biophys Res Commun 310:247-51. 2003
    ....
  47. ncbi request reprint Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA
    Tina Dysgaard Jeppesen
    The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Neurol Sci 214:17-20. 2003
    ..4 mmol/l), and in the mid-occipital region (2.3-3.2 mmol/l) that appeared normal on MRI. Further tests revealed evidence of a severe oxidative defect of muscle metabolism as well...
  48. ncbi request reprint Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency
    Mette C Ørngreen
    Copenhagen Muscle Research Center and Department of Neurology, National University Hospital, Rigshospitalet, Denmark
    Neurology 61:559-61. 2003
    ..Exercise tolerance, assessed by exercise duration and perceived exertion, improved on the carbohydrate-rich diet...
  49. ncbi request reprint Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy
    Tina D Jeppesen
    The Copenhagen Muscle Research Center, Copenhagen, Denmark
    Ann Neurol 54:86-92. 2003
    ....
  50. ncbi request reprint Against a role of lactic acid on the generation of the exercise pressor reflex
    John Vissing
    Clin Auton Res 13:83-4. 2003
  51. ncbi request reprint Decrement of compound muscle action potential is related to mutation type in myotonia congenita
    Eskild Colding-Jørgensen
    Department of Clinical Neurophysiology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Muscle Nerve 27:449-55. 2003
    ..In conclusion, CMAP decrement may be pronounced in dominant myotonia congenita, and the presence of decrement is related to mutation type...
  52. ncbi request reprint Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy
    Tina Dysgaard Jeppesen
    The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Neurol 250:293-9. 2003
    ..Cycle testing of MM patients remains an important research tool, but should not be a standard diagnostic procedure for MM...
  53. ncbi request reprint The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients
    Tanja Taivassalo
    Neuromuscular Center, Institute for Exercise and Environmental Medicine of Presbyterian Hospital, Dallas, TX 75231, USA
    Brain 126:413-23. 2003
    ..In patients with mtDNA mutations, muscle mutation load governs mitochondrial capacity for oxidative phosphorylation and determines exercise capacity...
  54. ncbi request reprint Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose
    Mette C Ørngreen
    Copenhagen Muscle Research Center and Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 59:1046-51. 2002
    ..Patients with carnitine palmitoyltransferase II (CPT II) deficiency often experience muscle pain and myoglobinuria during prolonged exercise because of impaired oxidation of long-chain fatty acids...
  55. ncbi request reprint Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms
    Ronald G Haller
    Neuromuscular Center, IEEM, 7232 Greenville Ave, Suite 435, Dallas, TX 75231, USA
    Arch Neurol 59:1395-402. 2002
    ..Blocked glycogen breakdown in McArdle disease impairs oxidative as well as anaerobic metabolism, but the contribution of impaired oxidative phosphorylation to everyday symptoms of McArdle disease remains poorly defined...
  56. ncbi request reprint Paternal inheritance of mitochondrial DNA
    Marianne Schwartz
    Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, Denmark
    N Engl J Med 347:576-80. 2002
  57. pmc Role of 5'AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease
    Jakob N Nielsen
    Copenhagen Muscle Research Centre, Department of Human Physiology, Institute of Exercise and Sport Sciences, University of Copenhagen, Denmark
    J Physiol 541:979-89. 2002
    ....
  58. ncbi request reprint A forearm exercise screening test for mitochondrial myopathy
    Tina D Jensen
    Copenhagen Muscle Research Center, Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 58:1533-8. 2002
    ..The authors hypothesized that impaired oxygen extraction in mitochondrial myopathy (MM) results in a high oxygen saturation in venous effluent blood from working muscle and that this phenomenon can be used as a diagnostic tool for MM...
  59. ncbi request reprint [Paternal inheritance of mitochondrial DNA]
    Marianne Schwartz
    H S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling, Neurocentret, Neurologisk afdeling
    Ugeskr Laeger 165:3627-30. 2003
  60. ncbi request reprint Decreased insulin action in skeletal muscle from patients with McArdle's disease
    Jakob N Nielsen
    Copenhagen Muscle Research Center, Department of Human Physiology, Institute of Exercise and Sport Sciences, University of Copenhagen, DK 2400 Copenhagen, Denmark
    Am J Physiol Endocrinol Metab 282:E1267-75. 2002
    ..The data further suggest that skeletal muscle glycogen levels play an important role in the regulation of insulin-stimulated glycogen synthase activity...
  61. ncbi request reprint LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005
    ..A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I...
  62. ncbi request reprint Aerobic training in patients with myotonic dystrophy type 1
    Mette C Orngreen
    Copenhagen Muscle Research Center and the Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 57:754-7. 2005
    ..The study indicates that aerobic training is safe and can improve fitness effectively in patients with myotonic dystrophy...
  63. ncbi request reprint Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy
    David B Olsen
    Department of Neurology and the Copenhagen Muscle Research Center, National University Hospital Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1064-6. 2005
    ..Twelve weeks of low-intense aerobic exercise improved maximal oxygen uptake and workload with no signs of muscle damage. The authors conclude that aerobic training is a safe method to increase exercise performance in patients with FSHD...
  64. ncbi request reprint Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations
    Mette C Ørngreen
    Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Ann Neurol 57:60-6. 2005
    ..The findings also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein...
  65. ncbi request reprint Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency
    Mette C Ørngreen
    The Copenhagen Muscle Research Center and the Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Ann Neurol 56:279-83. 2004
    ..This can cause an energy deficit and intramuscular accumulation of fat intermediates that may induce the exercise-induced symptoms...
  66. ncbi request reprint Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
    Morten Dunø
    Department of Clinical Genetics, 4062, University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Hum Genet 12:738-43. 2004
    ..Variation in allelic expression has not previously been described for CLCN1, and our finding suggests that allelic variation may be an important modifier of disease progression in myotonia congenita...
  67. ncbi request reprint Recombination of human mitochondrial DNA
    Yevgenya Kraytsberg
    Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
    Science 304:981. 2004
  68. ncbi request reprint No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
    Marianne Schwartz
    Department of Clinical Genetics 4062, National University Hospital, Righospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    J Neurol Sci 218:99-101. 2004
    ..Although these findings indicate that the paternal inheritance of mtDNA is rare, they do not rule out that the phenomenon may occur at a rate that could still affect genetic counselling and anthropological research...
  69. ncbi request reprint Muscle structural changes in mitochondrial myopathy relate to genotype
    David B Olsen
    Dept of Neurology and The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Neurol 250:1328-34. 2003
    ..These findings provide evidence that morphological changes in muscle of MM patients are common and may resemble those of muscular dystrophies, but that development of dystrophic-like changes in muscle relate to genotype...
  70. ncbi request reprint No spontaneous second wind in muscle phosphofructokinase deficiency
    Ronald G Haller
    Neuromuscular Center, Institute for Exercise and Environmental Medicine of Presbyterian Hospital, Dallas, TX 75231, USA
    Neurology 62:82-6. 2004
    ..Muscle phosphofructokinase deficiency (PFKD) blocks the metabolism of muscle glycogen and blood glucose. The authors inquired whether the additional restriction in glucose metabolism in PFKD prevents a spontaneous second wind...
  71. ncbi request reprint Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Gert Van Goethem
    Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
    Eur J Hum Genet 11:547-9. 2003
    ..The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations...
  72. ncbi request reprint Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI
    David B Olsen
    Dept of Neurology, Section 2082, National University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark
    J Neurol 253:1437-41. 2006
    ..The present study shows that MRI may disclose muscle involvement in FSHD that is not apparent on manual muscle testing, and suggests that MRI of muscle may be an important assessment tool in clinical trials involving patients with FSHD...
  73. ncbi request reprint Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis
    Haluk Yavuz
    Department of Pediatrics, Meram Medical Faculty, Selcuk University, Konya, Turkey
    Arch Neurol 64:435-8. 2007
    ..Intervention The patient was treated with peritoneal dialysis for 3 years, and the effect on symptoms and plasma concentrations of thymidine and deoxyuridine were monitored...
  74. ncbi request reprint [Juvenile asymmetrical segmental spinal muscular atrophy]
    Mette Cathrine Ørngreen
    Neurologisk Klinik 2082, H S Rigshospitalet, DK 2100 København Ø
    Ugeskr Laeger 164:4073-5. 2002
    ..EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative...
  75. ncbi request reprint Do carriers of PYGM mutations have symptoms of McArdle disease?
    Susanne Tvede Andersen
    Neuromuscular Research Unit, Department of Neurology, Copenhagen Muscle Research Center, Denmark
    Neurology 67:716-8. 2006
    ..Heterozygotes had maximal oxidative capacity and peak lactate responses identical to control subjects. Thus, carriers of single PYGM mutations are not prone to develop symptoms of McArdle disease...
  76. ncbi request reprint Treating MNGIE: is reducing blood nucleosides the first cure for a mitochondrial disorder?
    Patrick F Chinnery
    Neurology 67:1330-2. 2006
  77. ncbi request reprint [Mitochondrial diseases]
    John Vissing
    Ugeskr Laeger 165:661. 2003
  78. doi request reprint Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
    Marie Louise Sveen
    Neuromuscular Research Unit 3342, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Arch Neurol 65:1196-201. 2008
    ..To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD)...
  79. ncbi request reprint Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency
    Hana Antonicka
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 2B4
    J Biol Chem 278:43081-8. 2003
    ..We propose a possible assembly pathway for the complex, which differs significantly from that proposed for Neurospora, the current model for complex I assembly...
  80. ncbi request reprint Characterization of two new dominant ClC-1 channel mutations associated with myotonia
    Morten Grunnet
    Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Muscle Nerve 28:722-32. 2003
    ..These studies thereby explain the molecular background for the observed myotonia in patients...