Carregant...
Two novel mutations in TTN of a patient with congenital myopathy: A case report
BACKGROUND: Early‐onset myopathies show a wide spectrum of phenotypes and are composed of various types of inherited neuromuscular diseases, making it difficult to diagnose. TTN mutation‐related myopathy is a known cause of early‐onset myopathy. Since a next‐generation sequencing (NGS) has enabled s...
Guardat en:
| Publicat a: | Mol Genet Genomic Med |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687639/ https://ncbi.nlm.nih.gov/pubmed/31332964 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.866 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|