Novel POLG Mutation in a Patient with Sensory Ataxia, Neuropathy, Ophthalmoparesis and Stroke.

CONCLUSIONS: The novel mutation contributes to the expanding spectrum of disease-causing mutations. A definitive diagnosis can benefit our patient and also the relatives by avoiding sodium valproate induced liver toxicity in POLG patients and also the heterozygotes.
PMID: 26169155 [PubMed - as supplied by publisher]

Source: International Journal of Clinical Chemistry - July 10, 2015 Category: Chemistry Authors: Ching-Wan L, Chun-Yiu L, Wai-Kwan S, Cheuk-Wing F, Man-Mut Y, Kwai-Fun H, Hencher LH, Chloe MM Tags: Clin Chim Acta Source Type: research