منابع مشابه
Sleep disturbances in myotonic dystrophy type 2.
Sleep disorders in myotonic dystrophy type 1 (DM1) are common and include sleep-disordered breathing, hypersomnia, and fatigue. Little is known regarding the occurrence of sleep disturbance in myotonic dystrophy type 2 (DM2). We hypothesized that DM2 patients may frequently harbor sleep disorders. We reviewed medical records of all genetically confirmed cases of DM2 seen at our sleep center bet...
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 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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 کاملOverexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of two RNA binding proteins, MBNL1 and CUGBP1. However, DM1 and DM2 show disea...
متن کاملREM behavior disorder in myotonic dystrophy type 2.
A 63-year-old woman with myotonic dystrophy type 21 and obstructive sleep apnea by polysomnography, not on medications traditionally known to cause REM behavior disorder (RBD), had dream-enacting behavior (DEB). Overnight continuous positive airway pressure titration captured an episode of DEB with clear recall (video on the Neurology Web site at www.neurology.org). There was absence of muscle ...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2012
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.52.1267