Document Detail

Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene.
MedLine Citation:
PMID:  9604547     Owner:  NLM     Status:  MEDLINE    
The molecular genetic analyses (PCR and Southern hybridization) of Indian patients with myotonic dystrophy (DM) were carried out to determine the degree of repeat expansion and an attempt was made to correlate the repeat number with disease severity. A scoring system based on the salient clinical features was devised to objectively assess the disease severity. The repeat expansion was seen in 11 of 12 patients examined and showed an inverse correlation with the age of onset confirming the phenomenon of anticipation. This was further established in the two pedigrees studied, clearly demonstrating both clinical and genetic anticipation. The clinical severity score, however, did not correlate well with the repeat number. Nonetheless, such molecular genetic analyses may have immense value as a screening procedure to identify premutations as well as in prenatal diagnoses.
M Gourie-Devi; J R Chaudhuri; A Vasanth; Q Saleem; M Mutsuddi; M Gopinath; P S Sarkar; S K Brahmachari
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Indian journal of medical research     Volume:  107     ISSN:  0971-5916     ISO Abbreviation:  Indian J. Med. Res.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-06-11     Completed Date:  1998-06-11     Revised Date:  2013-04-18    
Medline Journal Info:
Nlm Unique ID:  0374701     Medline TA:  Indian J Med Res     Country:  INDIA    
Other Details:
Languages:  eng     Pagination:  187-96     Citation Subset:  IM    
Department of Neurology, National Institute of Mental Health & Neuro Sciences (Deemed University), Bangalore.
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MeSH Terms
Child, Preschool
Middle Aged
Myotonic Dystrophy / genetics*
Protein Kinases / genetics*
Protein-Serine-Threonine Kinases*
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:
EC 2.7.-/Protein Kinases; EC 2.7.1.-/myotonic dystrophy protein kinase; EC Kinases

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