Vacuolating megalencephalic leukoencepha
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Giorgia Montagna; Oscar Teijido; Eleonore Eymard-Pierre; Koutarou Muraki; Bruce
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Article
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2006
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John Wiley and Sons
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English
⚖ 344 KB
Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.A