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Article

Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S.

Journal of clinical neuromuscular disease - 1 Sept 2017

Fee Dominic B, Harmelink Matthew, Monrad Priya, Pyzik Erika

Abstract excerpt

Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening...

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Source

Identifiers

PMID: 28827486
DOI: 10.1097/CND.0000000000000173

Genes

TRAPPC11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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