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Title: Skin biopsy in Lafora disease - Genotype-phenotype correlations and diagnostic pitfalls
Authors: Andrade, D. M.
Ackerley, Cameron A.
Minett, Thaís Soares Cianciarullo [UNIFESP]
Teive, Helio Afonso Ghizoni
Bohlega, Saeed
Scherer, Stephen W.
Minassian, Berge A.
Hosp Sick Children
Univ Toronto
Univ Fed Parana
Universidade Federal de São Paulo (UNIFESP)
King Faisal Specialist Hosp & Res Ctr
Issue Date: 9-Dec-2003
Publisher: Lippincott Williams & Wilkins
Citation: Neurology. Philadelphia: Lippincott Williams & Wilkins, v. 61, n. 11, p. 1611-1614, 2003.
Abstract: 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 the skin cell type affected by LB formation. Also is described an important source of false positivity in the use of axillary biopsies for disease diagnosis.
ISSN: 0028-3878
Other Identifiers:​1212/​01.​WNL.​0000096017.​19978.​CB
Appears in Collections:Artigo

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