Article
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
Muscle & nerve - 1 Feb 2010
Fernandez Carla, Halbert Cécile, De Paula André Maues, Lacroze Valerié, Froissart Roseline, Figarella-Branger Dominique, Chabrol Brigitte, Pellissier Jean-François
Abstract excerpt
We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.563A>C) and a severe mutation in intron 5 (c.691+2T>C). We propose that the genotype and the quality of medical care may account for the severe but non-lethal phenotype.
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