Literature DB >> 19133863

Congenital myopathies--a comprehensive update of recent advancements.

M C Sharma1, D Jain, C Sarkar, H H Goebel.   

Abstract

The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects.

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Year:  2009        PMID: 19133863     DOI: 10.1111/j.1600-0404.2008.01126.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  12 in total

1.  New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Authors:  Daniela Piga; Francesca Magri; Dario Ronchi; Stefania Corti; Denise Cassandrini; Eugenio Mercuri; Giorgio Tasca; Enrico Bertini; Fabiana Fattori; Antonio Toscano; Sonia Messina; Isabella Moroni; Marina Mora; Maurizio Moggio; Irene Colombo; Teresa Giugliano; Marika Pane; Chiara Fiorillo; Adele D'Amico; Claudio Bruno; Vincenzo Nigro; Nereo Bresolin; Giacomo Pietro Comi
Journal:  J Mol Neurosci       Date:  2016-04-22       Impact factor: 3.444

2.  Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype.

Authors:  Valerie De Crescenzo; Kevin E Fogarty; Jason J Lefkowitz; Karl D Bellve; Elena Zvaritch; David H MacLennan; John V Walsh
Journal:  Proc Natl Acad Sci U S A       Date:  2011-12-27       Impact factor: 11.205

3.  Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Authors:  Elena Zvaritch; Natasha Kraeva; Eric Bombardier; Robert A McCloy; Frederic Depreux; Douglas Holmyard; Alexander Kraev; Christine E Seidman; J G Seidman; A Russell Tupling; David H MacLennan
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-03       Impact factor: 11.205

4.  Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

Authors:  Seema Kapoor; Ankur Singh; Vilma-Lotta Lehtokari; Carina Wallgren-Pettersson; Vineeta Vijay Batra
Journal:  Indian J Pediatr       Date:  2012-09-02       Impact factor: 1.967

Review 5.  Respiratory assessment in centronuclear myopathies.

Authors:  Barbara K Smith; Melissa Goddard; Martin K Childers
Journal:  Muscle Nerve       Date:  2014-08-05       Impact factor: 3.217

6.  On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.

Authors:  Antonella Taglia; Paola D'Ambrosio; Alberto Palladino; Luisa Politano
Journal:  Acta Myol       Date:  2012-12

7.  Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

Authors:  Sarah U Morton; Mugdha Joshi; Talia Savic; Alan H Beggs; Pankaj B Agrawal
Journal:  PLoS One       Date:  2015-04-13       Impact factor: 3.240

8.  A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies.

Authors:  Shigemi Kimura; Shiro Ozasa; Keiko Nomura; Hirofumi Kosuge; Kowasi Yoshioka
Journal:  Case Rep Pediatr       Date:  2013-05-16

9.  Diaphragm assessment in mice overexpressing phospholamban in slow-twitch type I muscle fibers.

Authors:  Val Andrew Fajardo; Ian Curtis Smith; Eric Bombardier; Paige J Chambers; Joe Quadrilatero; Allan Russell Tupling
Journal:  Brain Behav       Date:  2016-04-22       Impact factor: 2.708

10.  Coexistence of central nucleus, cores, and rods: Diagnostic relevance.

Authors:  Sathiyabama Dhinakaran; Rashmi Santhosh Kumar; Ravindra Thakkar; Gayathri Narayanappa
Journal:  Ann Indian Acad Neurol       Date:  2016 Apr-Jun       Impact factor: 1.383

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