Clinical and Molecular Features of Encephalomyopathy Due to the A3302G Mutation in the Mitochondrial tRNA Gene
نویسندگان
چکیده
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.
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