myotonic dystrophies การใช้

• Myotonic dystrophy ( DM ) is an inherited disease.
• There are two main types of myotonic dystrophy.
• Examples of atrophying muscle diseases include muscular dystrophy, myotonia congenita, and myotonic dystrophy.
• The incidence of congenital myotonic dystrophy is thought to be about 1 : 20, 000.
• Various hereditary conditions may feature diabetes, for example myotonic dystrophy and Friedreich's ataxia.
• Myotonic dystrophy ( DM ) 1 is an autosomal dominant neuromuscular disorder affecting approximately 1 in 8000 individuals.
• ROCKs are homologous to other metazoan kinases such as myotonic dystrophy kinase ( motifs at the C-terminus
• Interestingly, myotonic dystrophy is often associated with SOREMPs ( sleep onset REM periods, such as occur in narcolepsy ).
• These include the following : Prader-Willi syndrome; Norrie disease; Niemann Pick disease, type C; and myotonic dystrophy.
• With myotonic dystrophy, the repeat occurs downstream of the gene, and disease of increasing severity occurs as the number of repeats increases.
• But people with 700 repeats are likely to have adult onset myotonic dystrophy, and more than 800 cause earlier onset of the disease.
• Category III includes fragile X syndrome, myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia.
• A CCTG expansion in intron 1 of the ZNF9 gene results in myotonic dystrophy type 2 ( MIM 602668 ) . [ supplied by OMIM]
• "MYOM1 " has also been shown to be abnormally spliced in patients with myotonic dystrophy type I; specifically, exon 17a.
• Leanne learns Steve may have inherited myotonic dystrophy from Jim and she and Nick want Steve to be tested for it, however, he refuses.
• Clinicians who are less familiar with the myotonic dystrophies may expect people with both forms to present with the more severe, classic symptoms of DM1.
• She also cloned the gene responsible for Myotonic dystrophy and showed that an expanded trinucleotide repeat in this gene also was unstable and caused Myotonic dystrophy.
• She also cloned the gene responsible for Myotonic dystrophy and showed that an expanded trinucleotide repeat in this gene also was unstable and caused Myotonic dystrophy.
• Expansion of this unstable motif to 50-5, 000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number.
• CUGBP1 has been involved both as a key regulator of human myotonic dystrophy 1 ( DM1 ) and more recently as a regulator of human papilloma virus mRNA expression.