Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)

M Li, Arimantas Lionikas, F Yu, H Tajsharghi, A Oldfors, L Larsson

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)


The pathogenic events leading to the progressive muscle weakness in patients with a E706K mutation in the head of the myosin heavy chain (MyHC) IIa were analyzed at the muscle cell and motor protein levels. Contractile properties were measured in single muscle fiber segments using the skinned fiber preparation and a single muscle fiber in vitro motility assay. A dramatic impairment in the function of the IIa MyHC isoform was observed at the motor protein level. At the single muscle fiber level, on the other hand, a general decrease was observed in the number of preparations where the specific criteria for acceptance were fulfilled irrespective of MyHC isoform expression. Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression.
Original languageEnglish
Pages (from-to)782-791
Number of pages10
JournalNeuromuscular Disorders
Issue number11
Early online date26 Sept 2006
Publication statusPublished - Nov 2006


  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biopsy
  • Case-Control Studies
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscle Contraction
  • Muscle Fibers, Skeletal
  • Muscle Weakness
  • Muscle, Skeletal
  • Mutation, Missense
  • Myosin Heavy Chains
  • Protein Isoforms


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