[This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other mitochondrial features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE