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All subjects were provided genetic evaluation of the SLC2A1 gene. RESULTS We sequenced the SLC2A1 gene when you look at the proband for the family and identified the c.274C T variation (p.Arg92Trp). The presence of similar mutation had been confirmed in all affected household members; nevertheless, considerable variants within the clinical picture one of them had been observed. Besides the typical signs for G1D (age.g., epilepsy, intellectual d