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The maternal mtDNA mutation load heavily influences phenotypes in mtDNA mutator mice

✍ Scribed by James B. Stewart; Christoph Freyer; Arnaud Mourier; Erik Hagstrom; Marie Lagouge; Anna Wredenberg; Nils-Göran Larsson

Book ID
119327041
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
66 KB
Volume
12
Category
Article
ISSN
1567-7249

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## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li