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

Neuropathol Appl Neurobiol. 2015 Apr;41(3):399-402. doi: 10.1111/nan.12190.

Authors

Yehani Wedatilake¹, Vincent Plagnol, Glenn Anderson, Simon M L Paine, Peter T Clayton, Thomas S Jacques, Shamima Rahman

Affiliation

¹ Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Carboxylic Ester Hydrolases / genetics
Humans
Male
Mitochondrial Encephalomyopathies / genetics
Mitochondrial Encephalomyopathies / pathology*
Muscle, Skeletal / pathology*

Substances

Carboxylic Ester Hydrolases
SERAC1 protein, human

Supplementary concepts

Mitochondrial encephalopathy