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A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset
BACKGROUND: αB‐crystallin is a promiscuous protein involved in numerous cell functions. Mutations in CRYAB have been found in patients with different pathological phenotypes that are not properly understood. Patients can present different diseases like cataracts, muscle weakness, myopathy, cardiomyo...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434720/ https://www.ncbi.nlm.nih.gov/pubmed/32420686 http://dx.doi.org/10.1002/mgg3.1290 |