Article

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

2020-10-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> 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 <italic>TRAPPC11</italic> mutations have been reported with muscle weakness and other features including brain, liver, sk...

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Literature Corpus work: 943abcfc-3048-53b9-aadb-7bfcd9ced0c5
DOI: 10.21203/rs.3.rs-31937/v2

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