Ontology highlight
ABSTRACT:
SUBMITTER: Wong LJ
PROVIDER: S-EPMC2891192 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Wong Lee-Jun C LJ Naviaux Robert K RK Brunetti-Pierri Nicola N Zhang Qing Q Schmitt Eric S ES Truong Cavatina C Milone Margherita M Cohen Bruce H BH Wical Beverly B Ganesh Jaya J Basinger Alice A AA Burton Barbara K BK Swoboda Kathryn K Gilbert Donald L DL Vanderver Adeline A Saneto Russell P RP Maranda Bruno B Arnold Georgianne G Abdenur Jose E JE Waters Paula J PJ Copeland William C WC
Human mutation 20080901 9
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia (ar ...[more]