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The findings of clinical followup examination,electrophysiologic tests,and histologic examination of muscle specimens led to a revised diagnosis of minicore myopathy.Spinal muscular atrophy was diagnosed in 1967,before histochemical techniques for examining muscle tissue and quantitative electromyography became widely available.Moderate laboratory techniques later made the diagnosis of minicore myopathy possible.Progressive external ophthalmoplegia has been described in 24%of patients with minicore myopathy,but there have been only 7 reports of ophthalmoplegia with spinal muscular atrophy since 1954,and some of these diagnoses have been questioned. |
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areflexia congenital myopathy electromyogram eye closure face,elongated facial appearance,abnormal histochemistry of muscle lid closure,weakness of misdiagnosis multicore myopathy muscle biopsy muscle weakness,proximal myopathy neck weakness ophthalmoplegia ophthalmoplegia,progressive external ophthalmoplegia,total ptosis ptosis,bilateral scoliosis winging of scapula
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