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Combined Cranial Intraosseous and Cerebral Cavernous Malformations With Pathogenic CCM1 Germline Sequence Variations

Jian Ren1, Yukui Wei1, Tao Hong1

  • 1Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, China International Neuroscience Institute, Beijing, China.

JAMA Neurology
|November 2, 2020
PubMed
Abstract

No abstract available in PubMed .

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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