We describe an 8-day-old baby girl presenting a fatal infantile form of hypertrophic obstructive cardiomyopathy, associated with an A8296G mutation in the mitochondrial tRNA Lys gene. She was born from a healthy unrelated couple, and was the first infant of dizygotic twins. Soon after birth, she was
โฆ LIBER โฆ
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy
โ Scribed by Yoshihisa Matsushita; Toru Furukawa; Hiroshi Kasanuki; Makoto Nishibatake; Yachiyo Kurihara; Atsushi Ikeda; Naoyuki Kamatani; Hiroshi Takeshima; Rumiko Matsuoka
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 321 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1435-232X
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