Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness

Neuromuscul Disord. 1999 Jul;9(5):305-7. doi: 10.1016/s0960-8966(99)00019-x.


The mitochondrial mutation A-->G at nucleotide position 3243 is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myopathy with painful muscle stiffness as the predominant symptom. Additionally hypacusis, a mild hemisensory syndrome and impaired glucose tolerance were present. Muscle histopathology showed few ragged red fibers. The mutation was detected heteroplasmatically in DNA from muscle and blood. So far painful muscle stiffness has not been a known phenotype of the 3243 mutation.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mitochondria, Muscle / genetics*
  • Muscle Weakness / complications
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Diseases / complications
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Pain / etiology
  • Point Mutation


  • DNA, Mitochondrial