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  • Title: Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
    Author: Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S.
    Journal: Ann Neurol; 1996 Nov; 40(5):796-8. PubMed ID: 8957022.
    Abstract:
    We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.
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