Perrault syndrome type 3 caused by diverse molecular defects in CLPP
Author:
Funder
Australian Research Council
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-30311-1.pdf
Reference50 articles.
1. Marlin, S. et al. Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A 146A, 661–664, https://doi.org/10.1002/ajmg.a.32180 (2008).
2. Demain, L. A. et al. Expanding the genotypic spectrum of Perrault syndrome. Clin Genet 91, 302–312, https://doi.org/10.1111/cge.12776 (2017).
3. Jenkinson, E. M. et al. Perrault syndrome: further evidence for genetic heterogeneity. J Neurol 259, 974–976, https://doi.org/10.1007/s00415-011-6285-5 (2012).
4. Jenkinson, E. M. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92, 605–613, https://doi.org/10.1016/j.ajhg.2013.02.013 (2013).
5. Morino, H. et al. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology 83, 2054–2061, https://doi.org/10.1212/WNL.0000000000001036 (2014).
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