A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness
Author:
Funder
Deutsche Forschungsgemeinschaft (DE)
Charité Universitätsmedizin Berlin
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-017-1814-7/fulltext.html
Reference21 articles.
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2. Clarke NF (2011) Congenital fiber-type disproportion. Semin Pediatr Neurol 18:264–271. doi: 10.1016/j.spen.2011.10.008
3. Deol MS, Frank MP, Steel KP, Bock GR (1983) Genetic deafness of central origin. Brain Res 258:177–179. doi: 10.1016/0006-8993(83)91248-9
4. DePristo MA, Banks E, Poplin R et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498. doi: 10.1038/ng.806
5. Devaux JJ (2010) The C-terminal domain of βIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier. J Physiol 588:4719–4730. doi: 10.1113/jphysiol.2010.196022
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