Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
نویسندگان
چکیده
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملgenotype–phenotype correlations in iranian myotonic dystrophy type i patients
objectives: myotonic dystrophy type i (dm1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. dm1 is associated with the expansion and instability of ctg repeat in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene located on chromosome 19q13.3. the aim of this study was ...
متن کاملMyotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملRoutine echocardiography in patients with myotonic dystrophy type 1.
BACKGROUND Myotonic dystrophy type 1 (DM1) is an autosomal-dominant disease. One third of DM1 patients die suddenly, most of them due to the heart conduction abnormalities and arrhythmias. The aim of this study was to analyze echocardiographic findings in a large cohort of DM1 patients. METHODS This retrospective study comprised 111 patients and 71 healthy controls (HCs) matched for gender an...
متن کاملPsychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
AIM To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). METHOD Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abi...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2019
ISSN: 1738-1061,2092-7258
DOI: 10.3345/kjp.2018.06919