Article
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Neurology - 9 Dec 2003
Andrade D M, Ackerley C A, Minett T S C, Teive H A G, Bohlega S, Scherer S W, Minassian B A
Abstract excerpt
Lafora disease is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. In skin, LB have been reported in either eccrine sweat glands or in apocrine sweat glands. The disease is caused by mutations in either the EPM2A gene or in a second yet-unknown gene. Here the authors determine whether a genotype-phenotype correlation exists between the genetic form of the disease and...
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