Article
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Molecular genetics & genomic medicine - 1 Aug 2020
Marcos Ana T, Amorós Diego, Muñoz-Cabello Beatriz, Galán Francisco, Rivas Infante Eloy, Alcaraz-Mas Luis, Navarro-Pando José M
Abstract excerpt
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, cardiomyopathy, respiratory insufficiency or dysphagia, but also a variable combination of these pathologies has been found....
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