Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-07128-6.pdf
Reference25 articles.
1. Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG (2011) Nemaline myopathies. Seminars Paediatr Neurol 18(4):230–238. https://doi.org/10.1016/j.spen.2011.10.004
2. Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG et al (2021) A cross-sectional study of nemaline myopathy. Neurol 96(10):e1425–e1436. https://doi.org/10.1212/WNL.0000000000011458
3. Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB et al (2017) Clinical and histologic findings in ACTA1-related nemaline myopathy: case series and review of the literature. Pediatr Neurol 75:11–16. https://doi.org/10.1016/j.pediatrneurol.2017.04.002
4. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST et al (2001) Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50(3):312–320. https://doi.org/10.1002/ana.1080
5. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164–e164. https://doi.org/10.1093/nar/gkq603
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