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Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene

✍ Scribed by B.J.C. van den Bosch; I.F.M. de Coo; A.T.M. Hendrickx; H.F.M. Busch; G. de Jong; H.R. Scholte; H.J.M. Smeets


Book ID
116792219
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
107 KB
Volume
14
Category
Article
ISSN
0960-8966

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Large-scale deletions and point mutations of the mitochondrial DNA are generally accepted as being involved in the pathogenesis of diseases associated with mitochondrial encephalomyopathies such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO). We screened suspected p