Article
Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.
Movement disorders : official journal of the Movement Disorder Society - 1 May 1999
Sudarsky L, Plotkin G M, Logigian E L, Johns D R
Abstract excerpt
A variety of neurologic phenotypes have been described in patients with mitochondrial disorders. We report a 32-year-old man in whom dystonia was the salient and presenting feature of a mitochondrial DNA mutation. He presented at age 23 with writer's cramp and progressed over 5 years to exhibit dystonia in facial muscles and lower limbs. He also has exercise intolerance, mild, bilateral ptosis, proximal muscle...
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