Cargando…
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752365/ https://www.ncbi.nlm.nih.gov/pubmed/33363762 http://dx.doi.org/10.1002/ccr3.3146 |