Patient homozygous for a recessive POLG mutation presents with features of MERRF.

G. Van Goethem, Rudy Mercelis, A. Löfgren, Sara Seneca, C. Ceuterick-De Groote, Jean-Jacques Martin, Christine Van Broeckhoven

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70 Citaten (Scopus)

Samenvatting

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).
Originele taal-2English
Pagina's (van-tot)1811-1813
Aantal pagina's3
TijdschriftNeurology
Volume61
Nummer van het tijdschriftDecember
StatusPublished - 23 dec 2003

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