Patient homozygous for a recessive POLG mutation presents with features of MERRF.
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).
Van Goethem
G
G
Division of Neurology and the Neuromuscular Reference Center, University Hospital Antwerp, Belgium.
Mercelis
R
R
Löfgren
A
A
Seneca
S
S
Ceuterick
C
C
Martin
J J
JJ
Van Broeckhoven
C
C
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
D004272:DNA, Mitochondrial; D004247:DNA; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human