Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene.

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dc.contributor.authorGourie-Devi, Men_US
dc.contributor.authorChaudhuri, J Ren_US
dc.contributor.authorVasanth, Aen_US
dc.contributor.authorSaleem, Qen_US
dc.contributor.authorMutsuddi, Men_US
dc.contributor.authorGopinath, Men_US
dc.contributor.authorSarkar, P Sen_US
dc.contributor.authorBrahmachari, S Ken_US
dc.date.accessioned1998-04-30en_US
dc.date.accessioned2009-05-27T08:54:26Z
dc.date.available1998-04-30en_US
dc.date.available2009-05-27T08:54:26Z
dc.date.issued1998-04-30en_US
dc.description.abstractThe 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.en_US
dc.description.affiliationDepartment of Neurology, National Institute of Mental Health & Neuro Sciences (Deemed University), Bangalore.en_US
dc.identifier.citationGourie-Devi M, Chaudhuri JR, Vasanth A, Saleem Q, Mutsuddi M, Gopinath M, Sarkar PS, Brahmachari SK. Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene. Indian Journal of Medical Research. 1998 Apr; 107(): 187-96en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/26034
dc.language.isoengen_US
dc.source.urihttps://icmr.nic.in/ijmr/ijmr.htmen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMyotonic Dystrophy --geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshProtein Kinases --geneticsen_US
dc.subject.meshProtein-Serine-Threonine Kinasesen_US
dc.subject.meshRepetitive Sequences, Nucleic Aciden_US
dc.titleCorrelation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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