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Wendy M. Hutchison, BAppSci; Dominic Thyagarajan, MD, PhD; Joanna Poulton, MD, PhD; David R. Marchington, PhD; Denise M. Kirby, PhD; Shehnaaz S. M. Manji, PhD; Hans-Henrik M. Dahl, PhD

Arch Neurol. 2005;62:1920-1923.

Background  The mitochondrial DNA mutation A3302G in the tRNA^Leu(UUR) gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness.

Objective  To report on clinical and molecular features in 4 novel patients with the A3302G mutation.

Design  Case reports.

Patients  Four patients (3 of whom are from the same family) with a myopathy caused by the A3302G mitochondrial DNA mutation.

Main Outcome Measure  Identification of the A3302G mutation by DNA sequencing.

Results  All 4 patients had an adult-onset progressive mitochondrial myopathy with proximal muscle weakness, resulting in exercise intolerance. In 2 unrelated patients, upper limb reflexes were absent with preservation of at least some lower limb reflexes. Other features including hearing loss, recurrent headaches, ptosis, progressive external ophthalmoplegia, and depression were present.

Conclusion  While the dominant clinical features of the A3302G mutation were exercise intolerance and proximal muscle weakness, other features of mitochondrial encephalomyopathies, previously not described for this mutation, were present.

Author Affiliations: Murdoch Childrens Research Institute (Ms Hutchison and Drs Kirby, Manji, and Dahl) and Department of Paediatrics, University of Melbourne (Dr Dahl), Royal Children’s Hospital, Melbourne, Australia; Department of Neurology, Flinders Medical Centre, Bedford Park, Australia (Dr Thyagarajan); Nuffield Department of Obstetrics and Gynaecology, The Women’s Centre, John Radcliffe Hospital, Oxford, England (Drs Poulton and Marchington).

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