title: Patient homozygous for a recessive POLG mutation presents with features of MERRF.
abstract: 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 neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF).
authors.affiliation: Division of Neurology and the Neuromuscular Reference Center, University Hospital Antwerp, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Van Goethem
authors.forename: R
authors.initials: R
authors.lastname: Mercelis
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D000293:Adolescent; D000483:Alleles; D001259:Ataxia / Q000175:diagnosis / Q000209:etiology; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005808:Genes, Recessive; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D017243:MERRF Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D009207:Myoclonus / Q000175:diagnosis / Q000209:etiology; D012640:Seizures / Q000175:diagnosis / Q000209:etiology
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human