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Article

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.

Molecular genetics and metabolism - 1 May 2024

Corona-Rivera Jorge Román, Martínez-Duncker Iván, Morava Eva, Ranatunga Wasantha, Salinas-Marin Roberta, González-Jaimes Ana María, Castillo-Reyes Katia Alejandra, Peña-Padilla Christian, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Orozco-Vela Mireya, Brukman-Jiménez Sinhue Alejandro

Abstract excerpt

The trafficking protein particle (TRAPP) complex is a multisubunit protein complex that functions as a tethering factor involved in intracellular trafficking. TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global...

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Source

Identifiers

PMID: 38564972
DOI: 10.1016/j.ymgme.2024.108469

Genes

TRAPPC11
LAMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.PMID 38564972Read ↗

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