Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy-Reference-Cited by-同舟云学术

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Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy

Published:2024-09-04 Issue:1 Volume:148 Page:
ISSN:1432-0533
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Li Zhenyu,Chu Xujun,Li Yize,Xie Zhiying,Yu Meng,Deng Jianwen,Lv He,Zhang Wei,Wang Zhaoxia,Yuan Yun,Meng Lingchao^ORCID

Funder

National Natural Science Foundation of China

Beijing Municipal Social Science Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00401-024-02798-8.pdf

Reference2 articles.

1. Johari M, Sarparanta J, Vihola A et al (2021) Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathol 142(2):375–393. https://doi.org/10.1007/s00401-021-02319-x

2. Walsh I, Seno F, Tosatto SC, Trovato A (2014) PASTA 2.0: an improved server for protein aggregation prediction. Nucleic Acids Res 42(Web Server issue):W301–W307. https://doi.org/10.1093/nar/gku399

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