Schizophrenia: Maternal inheritance and heteroplasmy of mtDNA mutations
โ Scribed by Tomoe Ichikawa; Makoto Arai; Mitsuhiro Miyashita; Mayumi Arai; Nanako Obata; Izumi Nohara; Kenichi Oshima; Kazuhiro Niizato; Yuji Okazaki; Nagafumi Doi; Masanari Itokawa
- Book ID
- 116989469
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 775 KB
- Volume
- 105
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
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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
## Communicated by Garry R. Cutting Mitochondrial DNA (mtDNA) mutations are an important cause of human disease. Most mtDNA mutations are found in heteroplasmy, in which the proportion of mutant vs. wild-type species is believed to explain some of the observed high phenotypic heterogeneity. Howeve