Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy
β Scribed by Taranjit Singh Rai; Shamim Ahmad; Ajay Bahl; Monica Ahuja; Tarunveer Singh Ahluwalia; Balvinder Singh; K. K. Talwar; Madhu Khullar
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 280 KB
- Volume
- 321
- Category
- Article
- ISSN
- 0300-8177
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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 Ξ²-myosin heavy chain (__MYH7__) and cardiac myosin binding protein C (__MYBPC3__) reported as the most frequently mutated
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