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

The mitochondrial mutation A --> G at nucleotide position 3243 is associate d with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-l ike episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myo pathy with painful muscle stiffness as the predominant symptom. Additionall y hypacusis, a mild hemisensory syndrome and impaired glucose tolerance wer e present. Muscle histopathology showed few ragged red fibers. The mutation was detected heteroplasmatically in DNA from muscle and blood. So far pain ful muscle stiffness has not been a known phenotype of the 3243 mutation. ( C) 1999 Elsevier Science B.V. All rights reserved.