Vilma Lotta Lehtokari

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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

Detail Information

Publications8

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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:..
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...