Laddar...
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
BACKGROUND: Pathogenic variants in TTN (OMIM 188840), encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation of TTN variants is challenging, however, due to the frequency of missense changes, variable testing...
Sparad:
| I publikationen: | Mol Genet Genomic Med |
|---|---|
| Huvudupphovsmän: | , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
John Wiley and Sons Inc.
2019
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6825852/ https://ncbi.nlm.nih.gov/pubmed/31489791 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.924 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|