Article
Patient homozygous for a recessive POLG mutation presents with features of MERRF.
Neurology - 23 Dec 2003
Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin J J, Van Broeckhoven C
Abstract excerpt
Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic...
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