Details
| Name | E706K |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | muscle |
| Experiment Method | PCR |
| Up/Down | Up |
| Pro/Anti | Pro |
| Funtion Description | Young patients with muscle weakness and minor pathologic changes in muscle expressed MyHC IIa at undetectable levels. MyHC IIa was expressed at high levels in adults with a progressive clinical course and dystrophic muscle changes. |
| Regulation Gene | MyHC IIa |
| Year | 2002 |
| Pubmed ID | 11889243 |
| Title | Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. |
| Drug | NA |
| Disease | NA |
| Environment Factors | NA |
| Circulating | NA |
| Variant | somatic mutation |
| High-throughput | NA |