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45 Possible Causes for Myofibrillogenesis

  • Paroxysmal Non-Kinesigenic Dyskinesia

    Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M) and small (MR-1S)[ncbi.nlm.nih.gov] We report mutations in the myofibrillogenesis regulator 1 (MR-1) gene causing PNKD in 50 individuals from eight families.[ncbi.nlm.nih.gov] Recently, mutations in the myofibrillogenesis regulator 1 gene ( MR-1 ) have been identified in 10 unrelated PNKD kindreds.[neurology.org]

  • Myosin Storage Myopathy

    […] of residues in the heptad repeat of the mutant myosin rods likely alters interactions that stabilize coiled-coil dimers and thick filaments, causing disruption in ordered myofibrillogenesis[ncbi.nlm.nih.gov] Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords myofibrillogenesis; myofibril; alpha-actinin; myosin; A-bands; premyofibril; nascent[onlinelibrary.wiley.com] Sanger , Jasplakinolide reduces actin and tropomyosin dynamics during myofibrillogenesis, Cytoskeleton , 2014 , 71 , 9, 513 Wiley Online Library 14 Jennifer White , Marietta[onlinelibrary.wiley.com]

  • Paroxysmal Dyskinesia

    PKD has been linked to the pericentromeric region of chromosome 16, PNKD is associated with mutations in the myofibrillogenesis regulator 1 (MR-1) gene on the long arm of[mayoclinic.pure.elsevier.com] . , Feleke, A. et al. ( 2005 ) Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds[doi.org] Associated with mutations in the myofibrillogenesis regulator 1 gene (MR-1) on chromosome 2.[clinicaladvisor.com]

  • Generalized Epilepsy - Paroxysmal Dyskinesia Syndrome

    The gene encoding paroxysmal nonkinesigenic dyskinesia protein (PNKD) is also called myofibrillogenesis regulator 1 and is the only known gene for this condition.[epilepsygenetics.net] .: Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis . Arch Neurol 2004, 61: 1025–1029. PubMed CrossRef Google Scholar 39.[link.springer.com] […] writer's cramp PNKD2 Gene paroxysmal nonkinesigenic dyskinesia 2 PNKD Gene paroxysmal nonkinesigenic dyskinesia This gene is thought to play a role in the regulation of myofibrillogenesis[amp.pharm.mssm.edu]

  • Adult-Onset Cervical Dystonia Type DYT23

    Adolescent-onset torsion dystonia of mixed type Autosomal dominant 8p DYT7 Unknown Unknown Adult-onset focal cervical and laryngeal dystonia Autosomal dominant 18p DYT8 PNKD1/MRI Myofibrillogenesis[dystonia-foundation.org] Rainier S, Thomas D, Tokarz D et al (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.[link.springer.com]

  • Paroxysmal Exertion-Induced Dyskinesia

    PKD has been linked to the pericentromeric region of chromosome 16, PNKD is associated with mutations in the myofibrillogenesis regulator 1 (MR-1) gene on the long arm of[mayoclinic.pure.elsevier.com] Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK (2004) Myofibrillogenesis regulator 1 gene mutations cause[link.springer.com] Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH (2005) Presence of alanine-to-valine substitutions in myofibrillogenesis[link.springer.com]

  • Infantile Convulsions and Choreoathetosis

    While this disorder was suspected to be a channelopathy, mutations in the non-ion channel gene MR1 have been found in several families. 72 – 75 MR1 encodes a myofibrillogenesis[doi.org] Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK (2004) Myofibrillogenesis regulator 1 gene mutations cause[link.springer.com] Rainier S, Thomas D, Tokarz D, Ming L, Bui M, et al. (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.[journals.plos.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G

    Structural basis for activation of the titin kinase domain during myofibrillogenesis . Nature 395 , 863 –869 (1998). 25.[nature.com]

  • Cap Myopathy

    These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis. (C) 2006 Elsevier B.V.[research-repository.uwa.edu.au] These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis.[diva-portal.org] These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis. (C) 2006 Elsevier B.V. All rights reserved[research-repository.uwa.edu.au]

  • Favorable Response to Clonazepam

    Patients with this clinical presentation (which is similar to the phenotype initially reported by Mount and Reback) are likely to harbor myofibrillogenesis regulator 1 ( MR[n.neurology.org]

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