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A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy

✍ Scribed by C. Casali; F.M. Santorelli; G. Damati; P. Bernucci; L. Debiase; S. Dimauro


Book ID
117979304
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
237 KB
Volume
213
Category
Article
ISSN
0006-291X

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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