Article
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Human genetics - 1 Feb 2018
Tranebjærg Lisbeth, Strenzke Nicola, Lindholm Sture, Rendtorff Nanna D, Poulsen Hanne, Khandelia Himanshu, Kopec Wojciech, Lyngbye Troels J Brünnich, Hamel Christian, Delettre Cecile, Bocquet Beatrice, Bille Michael, Owen Hanne H, Bek Toke, Jensen Hanne, Østergaard Karen, Möller Claes, Luxon Linda, Carr Lucinda, Wilson Louise, Rajput Kaukab, Sirimanna Tony, Harrop-Griffiths Katherine, Rahman Shamima, Vona Barbara, Doll Julia, Haaf Thomas, Bartsch Oliver, Rosewich Hendrik, Moser Tobias, Bitner-Glindzicz Maria
Abstract excerpt
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.