Journal
CLINICAL GENETICS
Volume 57, Issue 1, Pages 74-82Publisher
MUNKSGAARD INT PUBL LTD
DOI: 10.1034/j.1399-0004.2000.570112.x
Keywords
CTG repeat; genotype; phenotype correlation; myotonic dystrophy
Categories
Ask authors/readers for more resources
Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number of CTG repeats detected in blood cells of 24 DM subjects was correlated with the severity of single clinical manifestations. The presence/absence of muscular atrophy, respiratory insufficiency. cardiac abnormalities, diabetes, cataract, sleep disorders, sterility or hypogonadism is not related to the number of CTG repeats. Muscular atrophy and respiratory insufficiency an present with the highest frequency, occurring in 96 and 92% of the cases, respectively. A significant correlation was found with age of onset (r = - 0.57, p < 0.01). muscular disability (r = 0.46, p < 0.05), intellective quotient (r = - 0.58, p < 0.01) and short-term memory (r = - 0.59, p < 0.01). Therefore, the CTG repeat number has a predictive value only in the case of some clinical manifestations, this suggesting that pathogenetic mechanisms of DM may differ depending on the tissue.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available