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...

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Detalles Bibliográficos
Autores principales: Marcos, Ana T., Amorós, Diego, Muñoz-Cabello, Beatriz, Galán, Francisco, Rivas Infante, Eloy, Alcaraz‐Mas, Luis, Navarro‐Pando, José M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
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

Internet

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

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