Literature DB >> 12796551

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.

A Vihola1, G Bassez, G Meola, S Zhang, H Haapasalo, A Paetau, E Mancinelli, A Rouche, J Y Hogrel, P Laforêt, T Maisonobe, J F Pellissier, R Krahe, B Eymard, B Udd.   

Abstract

Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation on muscle biopsies. Their results show that DM2 patients display a subpopulation of type 2 nuclear clump and other very small fibers and, hence, preferential type 2 fiber atrophy in contrast to type 1 fiber atrophy in DM1 patients.

Entities:  

Mesh:

Substances:

Year:  2003        PMID: 12796551     DOI: 10.1212/01.wnl.0000065898.61358.09

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  61 in total

1.  Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Authors:  Rosanna Cardani; Marzia Giagnacovo; Annalisa Botta; Fabrizio Rinaldi; Alessandra Morgante; Bjarne Udd; Olayinka Raheem; Sini Penttilä; Tiina Suominen; Laura V Renna; Valeria Sansone; Enrico Bugiardini; Giuseppe Novelli; Giovanni Meola
Journal:  J Neurol       Date:  2012-03-10       Impact factor: 4.849

2.  Reduction of Cellular Nucleic Acid Binding Protein Encoded by a Myotonic Dystrophy Type 2 Gene Causes Muscle Atrophy.

Authors:  Christina Wei; Lauren Stock; Christiane Schneider-Gold; Claudia Sommer; Nikolai A Timchenko; Lubov Timchenko
Journal:  Mol Cell Biol       Date:  2018-06-28       Impact factor: 4.272

3.  Case 12: my doctor says that I have ALS!

Authors:  Robin K Wilson; Vinay Chaudhry
Journal:  MedGenMed       Date:  2006-03-22

4.  Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

Authors:  Olayinka Raheem; Shodimu-Emmanuel Olufemi; Linda L Bachinski; Anna Vihola; Mario Sirito; Jeanette Holmlund-Hampf; Hannu Haapasalo; Yi-Ping Li; Bjarne Udd; Ralf Krahe
Journal:  Am J Pathol       Date:  2010-10-22       Impact factor: 4.307

Review 5.  The neonatal sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA1b): a neglected pump in scope.

Authors:  Ernő Zádor; Magdolna Kósa
Journal:  Pflugers Arch       Date:  2014-12-18       Impact factor: 3.657

Review 6.  The utility of muscle biopsy.

Authors:  David Lacomis
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081

7.  The neonatal sarcoplasmic reticulum Ca2+-ATPase gives a clue to development and pathology in human muscles.

Authors:  Magdolna Kósa; Kitti Brinyiczki; Philip van Damme; Nathalie Goemans; Károly Hancsák; Luca Mendler; Ernő Zádor
Journal:  J Muscle Res Cell Motil       Date:  2014-12-09       Impact factor: 2.698

Review 8.  Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.

Authors:  Jared Talbot; Lisa Maves
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2016-05-19       Impact factor: 5.814

9.  A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat.

Authors:  Sharon F Edwards; Mario Sirito; Ralf Krahe; Richard R Sinden
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-13       Impact factor: 11.205

10.  ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2.

Authors:  Morgan A Sammons; Amanda K Antons; Mourad Bendjennat; Bjarne Udd; Ralf Krahe; Andrew J Link
Journal:  PLoS One       Date:  2010-02-18       Impact factor: 3.240

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.