Article Text

PDF
Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
  1. I Pénisson-Besnier1,
  2. P Hackman2,
  3. T Suominen3,
  4. J Sarparanta4,
  5. S Huovinen4,
  6. I Richard-Crémieux1,
  7. B Udd2,3,4
  1. 1Département de Neurologie, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France
  2. 2Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
  3. 3Neuromuscular Research Center, Tampere University Hospital and Medical School, Tampere, Finland
  4. 4Department of Neurology, Vasa Central Hospital, Vasa, Finland
  1. Correspondence to Dr Isabelle Pénisson-Besnier, Département de Neurologie, Centre de référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49933 Angers Cedex 9, France; ispenisson-besnier{at}chu-angers.fr

Abstract

Limb-girdle muscular dystrophy 2J caused by mutations in C-terminal titin has so far been identified in Finnish patients only. This may in part be due to limited availability of diagnostic tests for titin defects. In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described. One deceased patient in the family proved to be homozygous for the C-terminal truncating titin mutation because of consanguinity. According to available medical records, the patient had a clearly more severe generalised muscle weakness and atrophy phenotype not recognised as a distal myopathy at the time. Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed.

  • Limb-girdle muscular dystrophy 2J
  • tibial muscular dystrophy
  • titin
  • TTN mutation
  • distal myopathies
  • muscular dystrophy
  • myopathy

Statistics from Altmetric.com

Footnotes

  • Funding The study was supported by grants (BU) from the Samfundet Folkhälsan Funds, the Sigrid Jusélius Foundation, the Vaasa Central Hospital research funds and the Academy of Finland research funds.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.