Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2003 Dec 9;61(11):1611-4.

Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Author information

1
Program in Genetics and Genomic Biology, Research Institute, Hospital for Sick Children and University of Toronto, Ontario, Canada.

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.

PMID:
14663053
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center