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Congenital myopathy associated with the triadin knockout syndrome

Content Provider	Scilit
Author	Engel, Andrew G. Redhage, Keeley R. Tester, David J. Ackerman, Michael J. Selcen, Duygu
Copyright Year	2017
Description	Journal: Neurology 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.
Related Links	http://europepmc.org/articles/pmc5373784?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373784/pdf https://n.neurology.org/content/neurology/88/12/1153.full.pdf
Ending Page	1156
Page Count	4
Starting Page	1153
e-ISSN	1526632X
DOI	10.1212/wnl.0000000000003745
Journal	Neurology
Issue Number	12
Volume Number	88
Language	English
Publisher	Ovid Technologies (Wolters Kluwer Health)
Publisher Date	2017-02-15
Access Restriction	Open
Subject Keyword	Journal: Neurology Myopathy Associated Congenital Myopathy
Content Type	Text
Resource Type	Article

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