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Article

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

Neuropathology and applied neurobiology - 1 Feb 2022

Munot Pinki, McCrea Nadine, Torelli Silvia, Manzur Adnan, Sewry Caroline, Chambers Darren, Feng Lucy, Ala Pierpaolo, Zaharieva Irina, Ragge Nicola, Roper Helen, Marton Tamas, Cox Phil, Milev Miroslav P, Liang Wen-Chen, Maruyama Shinsuke, Nishino Ichizo, Sacher Michael, Phadke Rahul, Muntoni Francesco

Abstract excerpt

AIMS: TRAPPC11, a subunit of the transport protein particle (TRAPP) complex, is important for complex integrity and anterograde membrane transport from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. Several individuals with TRAPPC11 mutations have been reported with muscle weakness and other features including brain, liver, skeletal and eye involvement. A detailed analysis of brain and...

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Identifiers

PMID: 34648194
DOI: 10.1111/nan.12771

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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