Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

@inproceedings{Wedatilake2015TubularAC,
  title={Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy},
  author={Yehani N Wedatilake and Vincent Plagnol and Glenn A. Anderson and Simon M. L. Paine and Peter Theodore Clayton and Thomas S Jacques and Shamima Rahman},
  booktitle={Neuropathology and applied neurobiology},
  year={2015}
}
Tubular aggregates (TAs) are cytoplasmic aggregates of membranous tubules derived from the sarcoplasmic reticulum and usually 50–70 nm in diameter [1]. They may be seen in a range of genetic myopathies, including gyrate atrophy caused by ornithine aminotransferase deficiency, periodic paralysis and two disorders of glycosylation caused by mutations in the GFPT1 and DPAGT1 genes [2,3]. In addition, they may occur as a minor or inconsistent feature in a wide range of myopathies or be the… CONTINUE READING
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MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria)

  • F Tort, MT García-Silva, +5 authors J Jiménez-Almazán
  • Folia Neuropathol
  • 2011

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