*  Genotype-Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients - Iranian Rehabilitation Journal
Genotype-Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients Kimia Kahrizi *1, Neda Moradin 1, Mojtaba Azimian ... Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal ... DM1 is associated with the expansion and instability of CTG repeat in the 3' untranslated region of the myotonic dystrophy ... Kahrizi K, Moradin N, Azimian M, Shojasaffar B, Alavi K, Nafisi S, et al . Genotype-Phenotype Correlations in Iranian Myotonic ...
  http://irj.uswr.ac.ir/article-1-101-en.html
*  Interim Results Released for AMO Pharma Clinical Trial | Myotonic Dystrophy Foundation
Since there have been no prior clinical trials using novel drugs targeted to the brain in congenital myotonic dystrophy (CDM), ... MDF is pleased to see candidate therapeutics moving forward for myotonic dystrophy and appreciates AMO Pharma's efforts. To ... Toll Free (US only): 86-MYOTONIC (866-968-6642). Direct: 415-800-7777. info@myotonic.org ... a cell signaling molecule thought to play a role in the pathogenesis of myotonic dystrophy. The AMO clinical trial is a single- ...
  http://myotonic.org/interim-results-released-amo-pharma-clinical-trial
*  The DMPK gene of severely affected myotonic dystrophy patients...
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat ... The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. ... side of the CTG repeat in the DMPK gene of normal individuals and of patients affected with myotonic dystrophy, showing ...
  https://www.mysciencework.com/publication/show/the-dmpk-gene-of-severely-affected-myotonic-dystrophy-patients-is-hypermethylated-proximal-to-the-largely-expanded-ctg-repeat
*  Myotonic Dystrophy: A Personal Essay | Myotonic Dystrophy Foundation
Myotonic dystrophy is a form of muscular dystrophy, but it is rare and not well-researched. It is a disease that few will know ... The biggest barrier that will have a lasting impression on me is myotonic dystrophy. My father is afflicted with this horrific ... Have you ever heard of a disease called myotonic dystrophy? Most likely not, although you probably have heard of muscular ... Toll Free (US only): 86-MYOTONIC (866-968-6642). Direct: 415-800-7777. info@myotonic.org ...
  http://myotonic.org/myotonic-dystrophy-personal-essay
*  The myotonic dystrophies: diagnosis and management. - Nuffield Department of Clinical Neurosciences
... myotonic dystrophy type 1 (DM1), also known as 'Steinert's disease'; and (2) myotonic dystrophy type 2 (DM2), also known as ... DM1 is the most common form of adult onset muscular dystrophy whereas DM2 tends to have a milder phenotype with later onset of ... proximal myotonic myopathy. DM1 and DM2 are progressive multisystem genetic disorders with several clinical and genetic ... There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) ...
  https://www.ndcn.ox.ac.uk/publications/241728
*  Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function : Human Molecular Genetics - oi
Myotonic dystrophy (DM) is a complex, dominantly inherited, multisystem disorder and the archetypal example of an RNA gain-of- ... Myotonic dystrophy (DM) is a complex, dominantly inherited, multisystem disorder and the archetypal example of an RNA gain-of- ... n repeat tracts in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy, DM1 and DM2, for which no cure ... n repeat tracts in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy, DM1 and DM2, for which no cure ...
  http://oxfordindex.oup.com/view/10.1093/hmg/ddq161
*  Abstract 17543: DMPK E Disrupts Sarcomere Structure by Inhibition of SRF Transcriptional Activity | Circulation
In a screen for MEF2 target genes, we have recently identified myotonic dystrophy protein kinase (DMPK) as a potential mediator ...
  http://circ.ahajournals.org/content/130/Suppl_2/A17543
*  Physiological function of myotonin protein kinase]. - Semantic Scholar
The mutation underlying myotonic dystrophy is the expansion of polymorphic CTG repeat in the 3'-noncoding region of the ... The mutation underlying myotonic dystrophy is the expansion of polymorphic CTG repeat in the 3'-noncoding region of the ...
  https://www.semanticscholar.org/paper/Physiological-function-of-myotonin-protein-kinase-Ishiura/7c4fe8fd69c1ebbd3f4f3c52472f9ea2b674ffe6
*  A Cure for Kate | Myotonic Dystrophy Foundation
Their efforts are now focused on raising awareness and funds for myotonic dystrophy. They are encouraged by the news this year ... On Kate's 3-month birthday, she was diagnosed with congenital myotonic dystrophy. ... Toll Free (US only): 86-MYOTONIC (866-968-6642). Direct: 415-800-7777. info@myotonic.org ...
  http://www.myotonic.org/node/11
*  Targeting nuclear RNA for in vivo correction of myotonic dystrophy.
... Posted August 6th, 2012. by Yannis Trakadis & filed under ... Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder characterized by myotonia, weakness, cardiac arrhythmias, ... Targeting nuclear RNA for in vivo correction of myotonic dystrophy.Wheeler et al. Nature. 2012 Aug 2;488(7409):111-5. PMID: ...
  https://ommbidblog.com/2012/08/06/targeting-nuclear-rna-for-in-vivo-correction-of-myotonic-dystrophy/
*  Testing and Diagnosis | Myotonic Dystrophy Foundation
Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. However, the path to a correct diagnosis of ... Myotonic dystrophy can take multiple forms that affect a broad spectrum of systems. Individuals may visit several different ... There are three explanations as to why some individuals with myotonic dystrophy might not show symptoms of the disease:. * ... Prenatal testing, where the DNA of the fetus is checked for the presence of the myotonic dystrophy mutation, is also available ...
  http://myotonic.org/living-dm/testing-and-diagnosis
*  Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains | JCB
Myotonic dystrophy type 2 (DM2) has phenotypic similarities to DM1 (Day et al., 2003), and, in DM2 cells, we also see that ... Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc. Natl. Acad. Sci. USA. 94:7394- ... Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science. 255:1253-1255. ... Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a ...
  http://jcb.rupress.org/content/178/6/951
*  MDF Staff Meets with NIAMS and NINDS | Myotonic Dystrophy Foundation
In November, Myotonic Dystrophy Foundation (MDF) staff met with the National Institute of Arthritis and Musculoskeletal and ... Toll Free (US only): 86-MYOTONIC (866-968-6642). Direct: 415-800-7777. info@myotonic.org ... senior leadership and program/policy staff to discuss research opportunities and federal support for myotonic dystrophy (DM). ...
  http://myotonic.org/mdf-staff-meets-niams-and-ninds
*  Myotonic Dystrophy - symptoms, Definition, Description, Demographics, Causes and symptoms, Diagnosis, Treatment
The International Myotonic Dystrophy Consortium (IDMC). 'New nomenclature and DNA testing guidelines for myotonic dystrophy ... congenital myotonic dystrophy, may appear in newborns of mothers who have DM1. Congenital myotonic dystrophy is marked by ... Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert disease, is a common form of ... Myotonic dystrophy is an uncommon disease occurring in about one out of every 8,000 individuals. It is found worldwide. The ...
  http://www.healthofchildren.com/M/Myotonic-Dystrophy.html
*  The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. - Semantic Scholar
Myotonic dystrophy (DM) type 1 is associated with an expansion of (,50) CTG repeats within the 3' untranslated region (UTR) of ... Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5.. *Karlie Jones. , Christina Wei ... The structural basis of myotonic dystrophy from the crystal structure of CUG repeats.. *. Blaine H. M. Mooers. , Jeremy S. ... A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1.. *Zhenming Yu. ...
  https://www.semanticscholar.org/paper/The-structural-basis-of-myotonic-dystrophy-from-th-Mooers-Logue/15eda35843a859da66385b14bc0ce1f723b14c9c
*  Myotonin-protein kinase - Wikipedia
"Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy". ... Myotonic dystrophy protein kinase has been shown to interact with HSPB2 and RAC1. The close relationship of DMPK to the Rho- ... For example, myotonic dystrophy protein kinase has been shown to turn off (inhibit) part of a muscle protein called myosin ... Pham YC, Man N, Lam LT, Morris GE (November 1998). "Localization of myotonic dystrophy protein kinase in human and rabbit ...
  https://en.wikipedia.org/wiki/Myotonin-protein_kinase
*  Myotonic Dystrophy - Treatment
Myotonic dystrophy cannot be completely cured. However, several forms of treatment may be instituted to provide symptomatic ... Mild cases of myotonic dystrophy do not require any treatment. More severe cases might demand treatment with quinine, phenytoin ... My husband has Myotonic Dystrophy and finds cycling and swimming a lot easier than walking. The cycling he likes better due to ... Drugs for Myotonic Dystrophy. Vecuronium. This medication is a muscle relaxant, prescribed for relaxing muscles during surgery ...
  http://www.medindia.net/patients/patientinfo/myotonicdystrophy_treatment.htm
*  Myotonic Dystrophy (ebook) by Peter Harper | 9780191582783
Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a ... download and read Myotonic Dystrophy ebook online in EPUB format for iPhone, iPad, Android, Computer and Mobile readers. Author ... Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a ... Further explanation of the advances in basic understandingof myotonic dystrophy, and additional coverage of the new approaches ...
  https://www.ebooks.com/665482/myotonic-dystrophy/harper-peter/
*  Myotonic Dystrophy Foundation Announces Two $100,000 Postdoctoral Fellowship Awards
The Myotonic Dystrophy Foundation (MDF) formally announces the first two $100,000 awards under its postdoctoral fellowship ... Foundation, Myotonic Dystrophy. "Myotonic Dystrophy Foundation Announces Two $100,000 Postdoctoral Fellowship Awards." Medical ... myotonic dystrophy.. Described as "the most variable of all diseases found in medicine", myotonic dystrophy can appear at any ... Myotonic Dystrophy", will investigate the molecular mechanisms underlying muscle weakness and wasting in myotonic dystrophy. ...
  https://www.medicalnewstoday.com/releases/136187.php
*  Myotonic Dystrophy
... , Type 1. 1. What every clinician should know. Clinical features and incidence. Myotonic dystrophy ( ... "Practical suggestions for the anesthetic management of a myotonic dystrophy patient. Myotonic Dystrophy Foundation". www. ... Characteristics of myotonic dystrophy subtypes. Disease subtype. Clinical findings. Repeat size. Age of onset. ... Type 2 myotonic dystrophy: many features similar to DM1, but with no risk of transmission of a congenital form. Due to ...
  https://www.neurologyadvisor.com/obstetrics-and-gynecology/myotonic-dystrophy/article/617827/
*  Myotonic Dystrophy | MD Australia
Myotonic dystrophy is a muscle condition that falls under the umbrella term 'muscular dystrophy'. The muscular dystrophies all ... What is congenital myotonic dystrophy?. Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy. As the ... What is myotonic dystrophy?. Myotonic dystrophy is a muscle condition that falls under the umbrella term 'muscular dystrophy'. ... What is type 2 myotonic dystrophy (DM2). Type 2 myotonic dystrophy, also sometimes called 'PROMM' (proximal myotonic myopathy ...
  https://www.mda.org.au/disorders/overview/myt/
*  What are the treatment options for myotonic dystrophy? | Reference.com
Treatment options for myotonic muscular dystrophy include surgery, drug therapies or a treatment plan involving assisted ... Treatment of myotonic muscular dystrophy aims to prevent deformity of the spine and joints to maintain the patient's ability to ... Treatment options for myotonic muscular dystrophy include surgery, drug therapies or a treatment plan involving assisted ... What are the treatment options for someone with muscular dystrophy?. A: While there is no cure for muscular dystrophy, physical ...
  https://www.reference.com/health/treatment-options-myotonic-dystrophy-81c93ac2283c802e
*  Myotonic Dystrophy > Neurology | Yale School of...
Myotonic Dystrophy. History. Myotonic dystrophy is an inherited disorder of muscle weakness and wasting characterized by ... Myotonic dystrophy is an autosomal dominant disorder. The gene for myotonic dystrophy is located on the short arm of chromosome ... There are rare sporadic cases of myotonic dystrophy.. Clinical Features. Myotonic dystrophy has effects throughout most of the ... Almost all children with congenital myotonic dystrophy are born to mothers with myotonic dystrophy and display a substantial ...
  https://medicine.yale.edu/neurology/patients/neuromuscular/md.aspx
*  Learning About Myotonic Dystrophy - National Human Genome Research Institute (NHGRI)
Additional Resources on Myotonic Muscular Dystrophy. What is myotonic dystrophy?. Myotonic dystrophy is an inherited type of ... cause myotonic dystrophy. Myotonic dystrophy Type 1 is caused by a mutation in the DMPK gene. Type 2 myotonic dystrophy is ... Myotonic Dystrophy Type 2 [ncbi.nlm.nih.gov]. From GeneTests. *Online Myotonic & Congenital Dystrophies Support Group ... Provides information on myotonic dystrophy.. *Myotonic Dystrophy [rarediseases.info.nih.gov]. Information from the Genetics and ...
  https://www.genome.gov/25521207/
*  Heart rate variability in myotonic dystrophy type 1 patients.
Cardiac involvement is common in myotonic dystrophy (MD) patients. Heart rate variability (HRV) is a simple and reliable ... BACKGROUND: Cardiac involvement is common in myotonic dystrophy (MD) patients. Heart rate variability (HRV) is a simple and ...
  http://www.biomedsearch.com/nih/Heart-rate-variability-in-myotonic/22406991.html