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

M. Deschauer, T. Wieser, S. Neudecker, A. Lindner, S. Zierz

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


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. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)305-307
Number of pages3
JournalNeuromuscular Disorders
Issue number5
StatePublished - 1 Jul 1999
Externally publishedYes


  • Mitochondrial mutation
  • Painful muscle stiffness


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