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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Reduction of serum IgG level and peripheral T-cell counts are correlated with CTG repeat lengths in myotonic dystrophy patients.

Myotonic dystrophy ( DM) is an autosomal dominant multisystem disorder associated with expansion of the CTG repeat within the 3' non-coding region of the myotonin protein kinase (MT-PK) gene. CTG repeat length has been shown to correlate with the clinical category and age at onset of the disease. The relationship between CTG repeat length and immunological parameters were analyzed in this study. We determined CTG repeat length in 14 DM patients and 15 normal controls using Southern and PCR analyses, and then correlated their CTG repeat lengths with their serum immunoglobulin (IgG, IgA, IgM) levels and the number of peripheral white blood cells, including lymphocyte subsets. In DM patients, increasing CTG repeat lengths correlated significantly with decreasing serum IgG levels, decreasing total lymphocyte counts, and decreasing CD2+, CD3+, and CD4+ cell counts. Immunological parameters were also influenced by the expansion of CTG repeat in DM patients.[1]


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