Article
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Neurology - 29 Nov 2011
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule D M, Battista V, Koenigsberger D Y, Pascual J M, Shanske S, Sano M, Mao X, Hirano M, Shungu D C, Dimauro S, De Vivo D C
Abstract excerpt
OBJECTIVE: To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning. METHODS: We included 85 matrilineal relatives from 35 families with at least 2 visits in this prospective cohort study. Thirty-one were fully symptomatic with mitochondrial...
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