Article
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Neurology - 27 Mar 2007
Lohi H, Turnbull J, Zhao X C, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati M A, Quinn N P, Franceschetti S, Zara F, Minassian B A
Abstract excerpt
Lafora disease (LD) can be diagnosed by skin biopsy, but this approach has both false negatives and false positives. Biopsies of other organs can also be diagnostic but are more invasive. Genetic diagnosis is also possible but can be inconclusive, for example, in patients with only one heterozygous EPM2A mutation and patients with apparently homozygous EPM2B mutations where one parent is not a carrier of the...
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