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. 2021 Sep 28;144(9):2722–2731. doi: 10.1093/brain/awab275

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Published by Oxford University Press on behalf of the Guarantors of Brain 2021.

This work is written by a US Government employee and is in the public domain in the US.

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RNA expression and protein localization experiments for MLIP. (A) Droplet digital PCR performed on muscle samples for Patients P1, P3 and P4, compared to control muscle (Ctrl). Amplicon concentration in copies/µl is shown normalized to B2M. Concentrations are shown for the boundaries between exons 1 and 2 (E1-E2), exons 3 and 4 (E3-E4), and exons 4 and 5 (E4-E5) of the transcript MLIP-213. (B) Immunofluorescence studies on muscle biopsy samples of Patients P1, P3 and P4. Confocal microscope pictures show a similar pattern of staining for MLIP and emerin in the control tissue compared to patient samples. Emerin (green) stains the nuclear envelope, while MLIP (red) is decorated mostly in the nucleus, with some cytoplasmic staining. DAPI (blue) is used for nuclear staining control. Top: ×200 magnification; bottom: ×630 magnification.