Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy
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 کاملSleep complaints in patients with myotonic dystrophy.
The aim of this study was to document the clinical picture of excessive daytime sleepiness (EDS) and of other sleep disturbances, and to study the relationship of daytime sleepiness to anthropometric data, muscular impairment, and CTG trinucleotide repeat expansion in myotonic dystrophy type 1 (DM1). A total of 157 DM1 patients were surveyed using a modified version of the Sleep Questionnaire a...
متن کاملPersonality patterns in patients with myotonic dystrophy.
BACKGROUND Myotonic dystrophy (DM) is a multisystemic disease. The central nervous system is affected by cognitive, affective, and personality disturbances. A characteristic behavior was noted from the first clinical descriptions, but no definitive conclusions have been drawn despite extensive debate. As DM is a genetic disease of well-defined abnormality, it may be a good model for understandi...
متن کاملFuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients.
We read with great interest the article by Mootha et al. concerning a possible correlation between Fuchs’ endothelial corneal dystrophy (FECD) and myotonic dystrophy (MD). We thank the authors because, among the studies we made trying to understand the reason of low intraocular pressure in patients with MD, they cited one study we published in 2010 where we examined the endothelial cells charac...
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ژورنال
عنوان ژورنال: European Journal of Neurology
سال: 2017
ISSN: 1351-5101
DOI: 10.1111/ene.13276