Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation

Affiliations

¹ Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
² Department of Neurology, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, 471000, China.
³ Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. fmuwzq@fjmu.edu.cn.
⁴ Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. ningwang@fjmu.edu.cn.

^# Contributed equally.

Kang Yang et al. Acta Neuropathol. 2022 Jun.

. 2022 Jun;143(6):733-735.

doi: 10.1007/s00401-022-02422-7. Epub 2022 May 2.

¹ Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
² Department of Neurology, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, 471000, China.
³ Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. fmuwzq@fjmu.edu.cn.
⁴ Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. ningwang@fjmu.edu.cn.

^# Contributed equally.

No abstract available

References

1. Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F et al (2004) Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy. Ann Neurol 56:133–138. https://doi.org/10.1002/ana.20158 - DOI - PubMed
1. Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C et al (2020) Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol 140:231–235. https://doi.org/10.1007/s00401-020-02164-4 - DOI - PubMed - PMC