Mitochondrial Encephalomyopathy Due to a Novel Mutation inACAD9
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منابع مشابه
Clinical and Molecular Features of Encephalomyopathy Due to the A3302G Mutation in the Mitochondrial tRNA Gene
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, p...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.3197