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Renal tubular acidosis and tetany were the 1st manifestations of Kearns- Sayre syndrome in a 5-year-old child.Subsequently,he developed progressive external ophthalmoplegia,ptosis,retinopathy,heart block,and endocrinopathy.There was a 7.5-kb deletion of mitochondrial DNA documented in muscle,kidney,skin fibroblasts,and leukocytes,providing evidence for a multisystem mitochondrial cytopathy. |
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