Article
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
American journal of medical genetics. Part A - 1 Jun 2017
Albanyan Saleh, Al Teneiji Amal, Monfared Nasim, Mercimek-Mahmutoglu Saadet
Abstract excerpt
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss,...
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