Article
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
The New England journal of medicine - 14 Apr 2005
Schultz Julie M, Yang Yandan, Caride Ariel J, Filoteo Adelaida G, Penheiter Alan R, Lagziel Ayala, Morell Robert J, Mohiddin Saidi A, Fananapazir Lameh, Madeo Anne C, Penniston John T, Griffith Andrew J
Abstract excerpt
Five adult siblings presented with autosomal recessive sensorineural hearing loss: two had high-frequency loss, whereas the other three had severe-to-profound loss affecting all frequencies. Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump...
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