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Published on: July 15, 2014
Congenital myopathy associated with the triadin knockout syndrome
Andrew G Engel1, Keeley R Redhage2, David J Tester2
1From the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN. age@mayo.edu.
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.
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