Premium
Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden
Author(s) -
Bjelle Anders,
Nordström Stefan,
Hagstam ÅSa
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb00959.x
Subject(s) - chondrocalcinosis , penetrance , arthropathy , proband , expressivity , medicine , genetics , dermatology , pediatrics , mutation , pathology , osteoarthritis , biology , phenotype , alternative medicine , gene
Genealogical links between three Swedish families with hereditary pyrophosphate arthropathy were found in the 18th century, indicating a possible founder effect, similar to earlier findings in Slovakia, France and Chile. However, no connection between the Swedish and other European families with the disease has so far been found. In accordance with other reported familial aggregations of pyrophosphate arthropathy, the transmission of the disease in the Swedish families appeared to be autosomal dominant with incomplete penetrance and variable expressivity. Severe symptoms related to homozygotic cases reported in some other families were not found in Sweden.