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- Title
Tubular aggregates caused by serine active site containing 1 ( SERAC1) mutations in a patient with a mitochondrial encephalopathy.
- Authors
Wedatilake, Yehani; Plagnol, Vincent; Anderson, Glenn; Paine, Simon M. L.; Clayton, Peter T.; Jacques, Thomas S.; Rahman, Shamima
- Abstract
The article presents a case study of a 13-year-old boy who developed tubular aggregates (TAs) due to serine active site containing 1 (SERAC1) mutations. It mentions that the patient had a progressive mitochondrial encephalopathy in the Leigh syndrome spectrum. The patient underwent muscle biopsy and determined undetectable activity of succinate-cytochrome c reductase with normal activities of complexes I and IV.
- Subjects
SUCCINATES; GENETIC mutation; MUSCULOSKELETAL system diseases; MITOCHONDRIAL encephalomyopathies
- Publication
Neuropathology & Applied Neurobiology, 2015, Vol 41, Issue 3, p399
- ISSN
0305-1846
- Publication type
Article
- DOI
10.1111/nan.12190