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Case Reports
Journal Article
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
Muscle & Nerve 2010 Februrary
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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