A novel paternally-inherited MYH7 gene variant in brothers with left ventricular non-compaction
We report the cases of two Caucasian brothers who both have the same paternally-inherited heterozygous MYH7 gene variant, R1832H. The defect was detected by whole exome sequence analysis. Both brothers presented with varying degrees of skeletal myopathy and left ventricular non-compaction. Variants...
Sparad:
| Huvudupphov: | , |
|---|---|
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Elsevier
2018-05-01
|
| Serie: | IHJ Cardiovascular Case Reports |
| Ämnen: | |
| Länkar: | http://www.sciencedirect.com/science/article/pii/S2468600X1730172X |
| Taggar: |
Inga taggar, Lägg till första taggen!
|