Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Vilma Lotta Lehtokari, Katarina Pelin, Agnes Herczegfalvi, Veronika Karcagi, Jean Pouget, Jerôme Franques, Jean François Pellissier, Dominique Figarella-Branger, Maja von der Hagen, Angela Huebner, Benedikt Schoser, Hanns Lochmüller, Carina Wallgren-Pettersson

Research output: Article

39 Citations (Scopus)


Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease. We have previously reported a nonspecific distal myopathy caused by homozygous missense mutations in the nebulin gene in six Finnish patients from four different families. Here we describe three non-Finnish patients in two unrelated families with distal nemaline myopathy caused by four different compound heterozygous nebulin mutations, only one of which is a missense mutation. One of the mutations has previously been identified in one family with the severe form of nemaline myopathy. We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy.

Original languageEnglish
Pages (from-to)556-562
Number of pages7
JournalNeuromuscular Disorders
Issue number8
Publication statusPublished - aug. 1 2011


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Lehtokari, V. L., Pelin, K., Herczegfalvi, A., Karcagi, V., Pouget, J., Franques, J., Pellissier, J. F., Figarella-Branger, D., von der Hagen, M., Huebner, A., Schoser, B., Lochmüller, H., & Wallgren-Pettersson, C. (2011). Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscular Disorders, 21(8), 556-562.