[HTML][HTML] Abnormal metabolism of glycogen phosphate as a cause for Lafora disease
VS Tagliabracci, JM Girard, D Segvich, C Meyer… - Journal of Biological …, 2008 - ASBMB
Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years
followed by neurodegeneration and death within 10 years. A characteristic is the
widespread formation of poorly branched, insoluble glycogen-like polymers (polyglucosan)
known as Lafora bodies, which accumulate in neurons, muscle, liver, and other tissues.
Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene,
which encodes laforin, a member of the dual specificity protein phosphatase family that is …
followed by neurodegeneration and death within 10 years. A characteristic is the
widespread formation of poorly branched, insoluble glycogen-like polymers (polyglucosan)
known as Lafora bodies, which accumulate in neurons, muscle, liver, and other tissues.
Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene,
which encodes laforin, a member of the dual specificity protein phosphatase family that is …