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1 walsh_2008_s4_c2_videoA Twinkle in Her Eye? (Presentation Video)A 46-year old female developed a nasal voice and upper extremity weakness at age 16. EMG and muscle biopsy showed evidence of myopathy. Her condition showed little progression until age 30 when she developed left sided hearing loss.Ophthalmoplegia; DNA Helicases; Mitochondrial Myopathies; Genetic Polymorphism; Ocular Motility Disorders; Exotropia; Ataxia; Mitochondrial Diseases; Point Mutation
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