Ontology highlight
ABSTRACT:
SUBMITTER: Burrage LC
PROVIDER: S-EPMC4253070 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Burrage Lindsay C LC Tang Sha S Wang Jing J Donti Taraka R TR Walkiewicz Magdalena M Luchak J Michael JM Chen Li-Chieh LC Schmitt Eric S ES Niu Zhiyv Z Erana Rodrigo R Hunter Jill V JV Graham Brett H BH Wong Lee-Jun LJ Scaglia Fernando F
Molecular genetics and metabolism 20140630 3
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of developmental delay, sensorineural hearing loss, epilepsy, agenesis of the corpus callosum, failure to thrive, and stroke-like episodes. Sequencing of the mitochondrial genome identified a ...[more]