Nemaline myopathies: a current view
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Biochemistry,Physiology
Link
http://link.springer.com/content/pdf/10.1007/s10974-019-09519-9.pdf
Reference126 articles.
1. Abdulhaq UN et al (2016) Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1). Muscle Nerve 53:564–569. https://doi.org/10.1002/mus.24885
2. Agrawal PB et al (2007) Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80:162–167. https://doi.org/10.1086/510402
3. Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH (2012) Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 21:2341–2356. https://doi.org/10.1093/hmg/dds053
4. Ajima R et al (2008) Deficiency of Myo18B in mice results in embryonic lethality with cardiac myofibrillar aberrations. Genes Cells: Devot Mol Cell Mech 13:987–999. https://doi.org/10.1111/j.1365-2443.2008.01226.x
5. Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS (2015) A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet 52:400–404. https://doi.org/10.1136/jmedgenet-2014-102964
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