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. 2023 May 16;60(10):965–973. doi: 10.1136/jmg-2022-109132

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Western blot analyses of TRAPPC11 (in fibroblasts) and alpha-dystroglycan (αDG) glycosylation (in muscle) in some patients. TRAPPC11 expression (A) was not different in fibroblasts from individuals (Ind) 5 and 6 compared with control while αDG glycosylation in muscle was reduced in some individuals. A subtle-to-moderate reduction was noted in Ind 8 and 11 compared with controls with antibodies VIA4 and IIH6. No reductions were noted in Ind 4, 5 and 13.