Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation
Kang Yang, Yi‐Heng Zeng, Yusen Qiu, Feng Lin, Hai‐Zhu Chen, Ming Jin, Long Chen, Fuze Zheng, Yuan-Liang Ding, Chun‐Yan Cao, Min‐Ting Lin, Wan‐Jin Chen, Zhiqiang Wang, Ning Wang
Topics & Concepts
PhenotypeGenotypeMyopathyPathologyUbiquitinBiologyAutophagyGeneticsMedicineGeneApoptosisCellular transport and secretionLysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus