Article
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Biochemical and biophysical research communications - 21 Sept 2012
Hussain Abrar, Armistead Joy, Gushulak Lara, Kruck Christa, Pind Steven, Triggs-Raine Barbara, Natowicz Marvin R
Abstract excerpt
Mutations of the glycogen branching enzyme gene, GBE1, result in glycogen storage disease (GSD) type IV, an autosomal recessive disorder having multiple clinical forms. One mutant allele of this gene, GBE1 c.1076A>C, has been reported in Ashkenazi Jewish cases of an adult-onset form of GSD type IV, adult polyglucosan body disease (APBD), but no epidemiological analyses of this mutation have been performed. We...
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