SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype
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 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...
متن کاملSleep 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 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...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2015
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2015.01.006