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Multiple Deletions of the Mitochondrial DNA in Polymyalgia Rheumatica

✍ Scribed by P. Reynier; J.F. Pellissier; J.R. Harle; Y. Malthiery


Book ID
115575701
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
387 KB
Volume
205
Category
Article
ISSN
0006-291X

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## Abstract We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenotype associated with multiple mtDNA deletions in muscle from a family in which linkage analysis excluded mutations in DNA polymerase Ξ³ (POLG), adenine nucleotide translocase (ANT‐1) or C10or