Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Montse Olivé, Judith Armstrong, Francesc Miralles, Adolf Pou, Michel Fardeau, Laura Gonzalez, Francesca Martínez, Dirk Fischer, Juan Antonio Martínez Matos, Alexey Shatunov, Lev Goldfarb, Isidre Ferrer

Research output: Contribution to journalArticlepeer-review

50 Citations (Scopus)


Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations.

Original languageEnglish
Pages (from-to)443-50
Number of pages8
JournalNeuromuscular Disorders
Issue number6
Publication statusPublished - Jun 2007


  • Adult
  • Ankle Joint
  • Biopsy
  • Desmin
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal
  • Muscular Diseases
  • Mutation
  • Myocardium
  • Myofibrils
  • Pedigree
  • Phenotype
  • Spain
  • Speech
  • Tomography, X-Ray Computed
  • Journal Article
  • Research Support, Non-U.S. Gov't


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