Abstract
The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.
MeSH terms
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1,4-alpha-Glucan Branching Enzyme / genetics*
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Female
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Glycogen Storage Disease Type IV / complications
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Glycogen Storage Disease Type IV / genetics*
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Glycogen Storage Disease Type IV / pathology*
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Humans
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Infant, Newborn
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Liver Diseases / etiology
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Muscle, Skeletal / pathology
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Muscle, Skeletal / ultrastructure
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Mutation*
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Neuromuscular Diseases / etiology
Substances
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1,4-alpha-Glucan Branching Enzyme