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Article

Congenital myopathy associated with the triadin knockout syndrome.

Neurology - 21 Mar 2017

Engel Andrew G, Redhage Keeley R, Tester David J, Ackerman Michael J, Selcen Duygu

Abstract excerpt

OBJECTIVE: Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome. METHODS: We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle. RESULTS: A 6-year-old boy with lifelong muscle weakness had a triadin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28202702
DOI: 10.1212/WNL.0000000000003745
PMCID: PMC5373784

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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