e9a1ad1d3cc1f9478af3abd563d2af9e PLN4_ACTN100296401.pdf 2cc96405f2c0d577589b9211188ee43732cccd0a PLN4_ACTN100296401.pdf dcb00bb9bb3f9482fb24393db8a07d814614d11c497eb1f3c6c5b88f14f773d7 PLN4_ACTN100296401.pdf Title: Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features Creator: Adobe InDesign 19.5 (Windows) Producer: Adobe PDF Library 17.0 CreationDate: Sat Jul 19 10:16:08 2025 CEST ModDate: Wed Jul 23 14:18:25 2025 CEST Custom Metadata: yes Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 16 Encrypted: no Page size: 595.276 x 782.362 pts Page rot: 0 File size: 5298155 bytes Optimized: yes PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- GVDEKW+STIXTwoText-Italic Type 1C WinAnsi yes yes yes 389 0 FZMYWY+STIXTwoText Type 1C Custom yes yes yes 392 0 UTAFYU+STIXTwoText-BoldItalic Type 1C WinAnsi yes 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Vacuolar Myopathy With Sarcolemmal Features Children: Item: Title: ABSTRACT Item: Title: 1   |   Introduction Item: Title: 2   |   Methods Children: Item: Title: 2.1   |   Patients Item: Title: 2.2   |   Muscle MRI Studies Item: Title: 2.3   |   Muscle Biopsy Item: Title: 2.4   |   Immunohistochemistry Item: Title: 2.5   |   Single and Double-Labelling Immunofluorescence and Confocal Microscopy Item: Title: 2.6   |   Electron Microscopy Item: Title: 2.7   |   Western Blot (WB) Item: Title: 2.8   |   Exome Sequencing Item: Title: 2.9   |   Long-Read Sequencing Item: Title: 2.10   |   Bioinformatics Analysis Item: Title: 2.11   |   RNA Sequencing Item: Title: 3   |   Results Children: Item: Title: 3.1   |   Clinical Features Children: Item: Title: 3.1.1   |   Family 1 Item: Title: 3.1.2   |   Family 2 Item: Title: 3.2   |   Myopathological Findings Item: Title: 3.3   |   Ultrastructural Analysis Revealed Membrane-Bounded Autophagic Vacuoles and Redundant Basal Lamina Item: Title: 3.4   |   Western Blot (WB) Analysis Revealed Increased PLIN4 Protein Expression Item: Title: 3.5   |   Whole Exome Sequencing and RNA Sequencing Item: Title: 3.6   |   Identification of a PLIN4 Expanded Tandem Repeat in Affected Individuals After Long-Read Sequencing Item: Title: 4   |   Discussion Item: Title: 5   |   Conclusions Item: Title: Author Contributions Item: Title: Acknowledgments Item: Title: Ethics Statement Item: Title: Conflicts of Interest Item: Title: Data Availability Statement Item: Title: References Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 2078 ImageHeight: 769 ColorSpace: black is zero BitsPerSample: 8 BitsPerSampleUnit: integer Intent: RelativeColorimetric Name: X Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 2081 ImageHeight: 1520 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Intent: 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