A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac ß-myosin heavy chain gene causing
Missense mutation of the β-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy
✍ Scribed by Arai, Shoichi ;Matsuoka, Rumiko ;Hirayama, Kenji ;Sakurai, Hisanao ;Tamura, Masaharu ;Ozawa, Tenkou ;Kimura, Misa ;Imamura, Shin-Ichiro ;Furutani, Yoshiyuki ;Joh-o, Kunitaka ;Kawana, Masatoshi ;Takao, Atsuyoshi ;Hosoda, Saichi ;Momma, Kazuo
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 911 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (__MYH7__) and cardiac myosin binding protein C (__MYBPC3__) reported as the most frequently mutated
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Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease in which one of the most frequently implicated gene is the gene encoding the b-myosin heavy chain. To date, more than 40 distinct mutations have been found within this gene. In order to progress on the determination of genot