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Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions.
Hamshere, M G; Harley, H; Harper, P; Brook, J D; Brookfield, J F.
Affiliation
  • Hamshere MG; Department of Genetics, Queen's Medical Centre, University of Nottingham, UK.
J Med Genet ; 36(1): 59-61, 1999 Jan.
Article in En | MEDLINE | ID: mdl-9950368
ABSTRACT
Myotonic dystrophy (DM) was the first of a group of diseases to be identified for which the genetic basis is the expansion of a triplet repeat. Myotonic dystrophy also exhibits anticipation, in which the disease worsens through successive generations. These two features have led many groups to analyse whether a significant negative correlation between triplet repeat length and severity of disease exists. However, the recent molecular finding that two distinct subsets of classically affected DM patients exist, those who export expansion derived DMPK RNA and those who do not, led us to question whether combining data from these two sets of patients is statistically valid. We found that although patients with small expansions showed a significant correlation between age at onset and triplet repeat length, those with larger expansions did not. The theoretical triplet repeat size, which separated the two groups, was also deduced.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trinucleotide Repeats / Myotonic Dystrophy Type of study: Prognostic_studies Limits: Aged / Humans Language: En Journal: J Med Genet Year: 1999 Document type: Article Affiliation country: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trinucleotide Repeats / Myotonic Dystrophy Type of study: Prognostic_studies Limits: Aged / Humans Language: En Journal: J Med Genet Year: 1999 Document type: Article Affiliation country: Reino Unido
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