Carina Wallgren-Pettersson

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA
    Skelet Muscle 1:23. 2011
  2. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
  3. ncbi request reprint Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
    C Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, and the Folkhälsan Institute of Genetics, Finland
    Neuromuscul Disord 9:564-72. 1999
  4. doi request reprint Nemaline myopathies
    Carina Wallgren-Pettersson
    The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Semin Pediatr Neurol 18:230-8. 2011
  5. ncbi request reprint Distal myopathy caused by homozygous missense mutations in the nebulin gene
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Brain 130:1465-76. 2007
  6. ncbi request reprint 138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 16:54-60. 2006
  7. ncbi request reprint Congenital myopathies
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Finland
    Eur J Paediatr Neurol 9:27-8. 2005
  8. ncbi request reprint Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 14:461-70. 2004
  9. ncbi request reprint 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Department of Medical Genetics, University of Helsinki, PO Box 211, Topeliuksenkatu 20, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:56-69. 2004
  10. ncbi request reprint 109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 13:501-7. 2003

Collaborators

Detail Information

Publications32

  1. pmc Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA
    Skelet Muscle 1:23. 2011
    ..abstract:..
  2. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
    ..Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis...
  3. ncbi request reprint Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
    C Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, and the Folkhälsan Institute of Genetics, Finland
    Neuromuscul Disord 9:564-72. 1999
    ..Studies of additional families are needed to localise the as yet unknown causative genes, and to fully elucidate genotype-phenotype correlations...
  4. doi request reprint Nemaline myopathies
    Carina Wallgren-Pettersson
    The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Semin Pediatr Neurol 18:230-8. 2011
    ..At least 1 further gene remains to be identified. Patient care is based on managing the clinical symptoms. Animal models are helping to gain insight into pathogenesis, and a variety of therapeutic approaches are being investigated...
  5. ncbi request reprint Distal myopathy caused by homozygous missense mutations in the nebulin gene
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Brain 130:1465-76. 2007
    ..We conclude that homozygous missense mutations in NEB cause a novel distal myopathy, predominantly involving lower leg extensor muscles, finger extensors and neck flexors...
  6. ncbi request reprint 138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 16:54-60. 2006
  7. ncbi request reprint Congenital myopathies
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Finland
    Eur J Paediatr Neurol 9:27-8. 2005
  8. ncbi request reprint Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 14:461-70. 2004
    ..Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication...
  9. ncbi request reprint 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Department of Medical Genetics, University of Helsinki, PO Box 211, Topeliuksenkatu 20, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:56-69. 2004
  10. ncbi request reprint 109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 13:501-7. 2003
  11. ncbi request reprint Gene table: congenital myopathies
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki and the Folkhälsan, Department of Medical Genetics, Helsinki, Finland
    Eur J Paediatr Neurol 7:143-4. 2003
  12. ncbi request reprint Mutations in the nebulin gene can cause severe congenital nemaline myopathy
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, P O Box 211, 0251, Helsinki, Finland
    Neuromuscul Disord 12:674-9. 2002
    ..Three had arthrogryposis. In three of the five families, the mutations were located in exon 184. These mutations are predicted to cause absence of the C-terminal part of nebulin...
  13. ncbi request reprint Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    Vilma Lotta Lehtokari
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 27:946-56. 2006
    ..Patients with more severe clinical pictures tended to have mutations predicted to be more disruptive than patients with milder forms...
  14. ncbi request reprint Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
    Vilma Lotta Lehtokari
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland, and Division of Neurology, University Hospital of Antwerp, Antwerpen, Belgium
    Neuromuscul Disord 17:433-42. 2007
    ..Missense mutations in TPM2 have previously been found to cause rare cases of nemaline myopathy and distal arthrogryposis. This mutation is one not previously described and the first genetic cause identified for cap disease...
  15. doi request reprint Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
    Vilma Lotta Lehtokari
    Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland
    Eur J Hum Genet 16:1055-61. 2008
    ..Previously, there had been five reports, only, of NM caused by mutations in TPM3. The mutation reported here is the first deletion to be identified in TPM3, and it is likely to be a founder mutation in the Turkish population...
  16. ncbi request reprint Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy
    Kati Donner
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 12:151-8. 2002
    ..Both mutations affect conserved amino acids, and in both cases, the mutant allele is expressed. We speculate that the observed mutations affect the formation of the tropomyosin dimer and its actin-binding properties...
  17. ncbi request reprint Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts
    Kati Donner
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, FIN 00014 Helsinki, Finland
    Eur J Hum Genet 12:744-51. 2004
    ..The use of alternative transcripts might also explain why severe phenotypes are rare among patients with two truncating mutations...
  18. ncbi request reprint Nebulin mutations in autosomal recessive nemaline myopathy: an update
    Katarina Pelin
    Department of Medical Genetics, University of Helsinki and the Folkhälsan Institute of Genetics, P O Box 211, FIN 00251, Helsinki, Finland
    Neuromuscul Disord 12:680-6. 2002
    ..Most of the mutations are predicted to result in truncated or internally deleted proteins. Mutations in the differentially expressed exons are expected to reduce the nebulin isoform diversity necessary for normal muscle development...
  19. pmc The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence
    Vilma Lotta Lehtokari
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 19:179-81. 2009
    ..In all but two of eight homozygous patients, the clinical picture was more severe than in typical nemaline myopathy...
  20. doi request reprint Expression of multiple nebulin isoforms in human skeletal muscle and brain
    Jenni Laitila
    Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI 00014, Finland
    Muscle Nerve 46:730-7. 2012
    ..Multiple isoforms of nebulin are produced from the 183-exon-containing nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy...
  21. ncbi request reprint Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128
    Kati Donner
    The Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, FIN 00014 Helsinki, Finland
    Genomics 88:489-95. 2006
    ..The expression patterns did not correlate with fiber-type composition. We speculate that these exons harbor a regulatory function utilized during muscle maturation...
  22. doi request reprint Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
    Vilma Lotta Lehtokari
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Finland
    Neuromuscul Disord 21:556-62. 2011
    ..Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy...
  23. ncbi request reprint Nebulin--a giant chameleon
    Katarina Pelin
    Department of Biological and Environmental Sciences, Division of Genetics, University of Helsinki, Helsinki, Finland
    Adv Exp Med Biol 642:28-39. 2008
    ..Because of the giant size of the gene, molecular genetic testing methods are difficult to design for routine diagnostic use...
  24. ncbi request reprint Nemaline and myotubular myopathies
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Finland
    Semin Pediatr Neurol 9:132-44. 2002
    ..In the long-term management of patients with nemaline myopathy, respiratory capacity requires regular monitoring for early detection of insidious hypoventilation...
  25. doi request reprint Large genomic rearrangements and germline epimutations in Lynch syndrome
    Annette Gylling
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Int J Cancer 124:2333-40. 2009
    ..Our findings have important implications in the diagnosis and management of such families...
  26. ncbi request reprint Magnetic resonance imaging of muscle in nemaline myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Guy s Hospital, London, UK
    Neuromuscul Disord 14:779-84. 2004
    ....
  27. pmc Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
    Pankaj B Agrawal
    Genomics Program, the Divisions of Genetics and Neonatology, Children s Hospital Boston, Boston, MA, 02115, USA
    Am J Hum Genet 80:162-7. 2007
    ....
  28. ncbi request reprint Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
    Annick Toutain
    Service de Genetique, Hopital Bretonneau, Centre Hospitalo Universitaire, Tours, France
    Eur J Hum Genet 10:516-20. 2002
    ....
  29. ncbi request reprint Genotype-phenotype correlations in X-linked myotubular myopathy
    Meriel McEntagart
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Neuromuscul Disord 12:939-46. 2002
    ..The high survival rate for this disorder therefore reflects intensive medical intervention without which the majority of these boys would not survive...
  30. ncbi request reprint Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
    John C Sparrow
    Department of Biology, University of York, York, YO10 5DD, UK
    Neuromuscul Disord 13:519-31. 2003
    ..g. actin myopathy. This would suggest that interference with certain actin functions may be more associated with certain phenotypes, though the exact pathophysiology of the actin mutations remains unknown...
  31. ncbi request reprint Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    Anne Sophie Nicot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Department of Molecular Pathology, F 67400 Illkirch, France
    Nat Genet 39:1134-9. 2007
    ....
  32. ncbi request reprint [Updating recommendation for respiratory care of patients with neuromuscular disorders]
    Carina Wallgren-Pettersson
    Folkhälsanin perinöllisyystieteen laitos ja Lääketieteellisen genetiikan osasto, Helsinki
    Duodecim 120:1547-8. 2004