[In a 3-generation ataxic family with the m.8993T-- > C mutation of mtDNA, 1 had episodic ataxia & transient hemipareses, broadening the phenotype/further cases were identified in an additional cohort of 191 patients with suspected EA.]. 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