Abstract
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 muscle weakness and extra-skeletal involvement are reported with recessive TRAPPC11 mutations. We describe further five cases of early-onset TRAPPC11–related muscular dystrophy, with a systematic review of their muscle pathology, post-mortem neuropathology in one patient, and membrane trafficking assays in another.
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