Lower limb radiology of distal myopathy due to the S60F myotilin mutation

Eur Neurol. 2009;62(3):161-6. doi: 10.1159/000227266. Epub 2009 Jul 3.


Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected. Precisely defining specific categories is a challenge because of overlapping clinical phenotypes, making it difficult to decide which of the many known causative genes to screen in individual cases. In this study we define the distinguishing magnetic resonance imaging findings in myotilin myopathy by studying 8 genealogically unrelated cases due to the same point mutation in TTID. Proximally, the vastii, biceps femoris and semimembranosus were involved with sparing of gracilis and sartorius. Distally, soleus, gastrocnemius, tibialis anterior, extensor hallicus and extensor digitorum were involved. This pattern contrasts with other distal myopathies and provides further support for the role of imaging in the clinical investigation of muscle disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Connectin
  • Cytoskeletal Proteins / genetics*
  • Distal Myopathies / genetics*
  • Distal Myopathies / pathology*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microfilament Proteins
  • Middle Aged
  • Muscle Proteins / genetics*
  • Muscle, Skeletal / pathology*
  • Point Mutation


  • Connectin
  • Cytoskeletal Proteins
  • MYOT protein, human
  • Microfilament Proteins
  • Muscle Proteins