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A point mutation in the cytb gene of cardiac mtDNA associated with Complex III deficiency in ischemic cardiomyopathy

โœ Scribed by Jose Marin-Garcia; Yaping Hu; Radha Ananthakrishnan; Mary Ella Pierpont; Gordon L. Pierpont; Michael J. Goldenthal


Book ID
111741975
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
423 KB
Volume
40
Category
Article
ISSN
1521-6543

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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