Congenital myopathy associated with the triadin knockout syndrome

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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 knockout syndrome caused by compound heterozygous null mutations in triadin. Light microscopy of a deltoid muscle specimen shows multiple small abnormal spaces in all muscle fibers. Triadin immunoreactivity is absent from type 1 fibers and barely detectable in type 2 fibers. Electron microscopy reveals focally distributed dilation and degeneration of the lateral cisterns of the sarcoplasmic reticulum and loss of the triadin anchors from the preserved lateral cisterns. Conclusions: Absence of triadin in humans can result in a congenital myopathy associated with profound pathologic alterations in components of the sarcoplasmic reticulum. Why only some triadin-deficient patients develop a skeletal muscle phenotype remains an unsolved question.

Original languageEnglish (US)
Pages (from-to)1153-1156
Number of pages4
JournalNeurology
Volume88
Issue number12
DOIs
StatePublished - Mar 21 2017

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Myotonia Congenita
Skeletal Muscle
Sarcoplasmic Reticulum
Electron Microscopy
Deltoid Muscle
Phenotype
triadin
Light
Muscle Weakness
Dilatation
Microscopy
Myocardium
Calcium

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Congenital myopathy associated with the triadin knockout syndrome. / Engel, Andrew G; Redhage, Keeley R.; Tester, David J.; Ackerman, Michael John; Selcen, Duygu.

In: Neurology, Vol. 88, No. 12, 21.03.2017, p. 1153-1156.

Research output: Contribution to journalArticle

Engel, Andrew G ; Redhage, Keeley R. ; Tester, David J. ; Ackerman, Michael John ; Selcen, Duygu. / Congenital myopathy associated with the triadin knockout syndrome. In: Neurology. 2017 ; Vol. 88, No. 12. pp. 1153-1156.
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