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Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy

โœ Scribed by Hu Wang; Zhaohui Li; Jizheng Wang; Kai Sun; Qiqiong Cui; Lei Song; Yubao Zou; Xiaojian Wang; Xuan Liu; Rutai Hui; Yuxin Fan


Book ID
113422933
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
910 KB
Volume
87
Category
Article
ISSN
0002-9297

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Fatal hypertrophic cardiomyopathy associ
โœ Yukihiro Akita; Yasutoshi Koga; Rikako Iwanaga; Naoko Wada; Junko Tsubone; Seiic ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 85 KB ๐Ÿ‘ 1 views

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