Literature DB >> 23388406

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Alexander Lossos, Anders Oldfors, Yakov Fellig, Vardiella Meiner, Zohar Argov, Homa Tajsharghi.   

Abstract

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Year:  2013        PMID： 23388406     DOI： 10.1093/brain/aws365

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  5 in total

1.  A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Authors:  Tracey Willis; Carola Hedberg-Oldfors; Zoya Alhaswani; Richa Kulshrestha; Caroline Sewry; Anders Oldfors
Journal:  J Neurol       Date:  2016-05-13       Impact factor: 4.849

2.  Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

Authors:  Sandra Donkervoort; Carl E Kutzner; Ying Hu; Xavière Lornage; John Rendu; Tanya Stojkovic; Jonathan Baets; Sarah B Neuhaus; Jantima Tanboon; Reza Maroofian; Véronique Bolduc; Magdalena Mroczek; Stefan Conijn; Nancy L Kuntz; Ana Töpf; Soledad Monges; Fabiana Lubieniecki; Riley M McCarty; Katherine R Chao; Serena Governali; Johann Böhm; Kanokwan Boonyapisit; Edoardo Malfatti; Tumtip Sangruchi; Iren Horkayne-Szakaly; Carola Hedberg-Oldfors; Stephanie Efthymiou; Satoru Noguchi; Sarah Djeddi; Aritoshi Iida; Gabriella di Rosa; Chiara Fiorillo; Vincenzo Salpietro; Niklas Darin; Julien Fauré; Henry Houlden; Anders Oldfors; Ichizo Nishino; Willem de Ridder; Volker Straub; Wojciech Pokrzywa; Jocelyn Laporte; A Reghan Foley; Norma B Romero; Coen Ottenheijm; Thorsten Hoppe; Carsten G Bönnemann
Journal:  Am J Hum Genet       Date:  2020-11-19       Impact factor: 11.025

3.  Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Authors:  Andrew R Findlay; Matthew B Harms; Alan Pestronk; Conrad C Weihl
Journal:  Neuromuscul Disord       Date:  2018-05-21       Impact factor: 4.296

4.  MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Authors:  Roberta Telese; Serena Pagliarani; Alberto Lerario; Patrizia Ciscato; Gigliola Fagiolari; Denise Cassandrini; Nadia Grimoldi; Giorgio Conte; Claudia Cinnante; Filippo M Santorelli; Giacomo P Comi; Monica Sciacco; Lorenzo Peverelli
Journal:  Mol Genet Genomic Med       Date:  2020-06-24       Impact factor: 2.183

5.  Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.

Authors:  Nicolas N Madigan; Michael J Polzin; Gaofeng Cui; Teerin Liewluck; Mohammad H Alsharabati; Christopher J Klein; Anthony J Windebank; Georges Mer; Margherita Milone
Journal:  Acta Neuropathol Commun       Date:  2021-04-29       Impact factor: 7.801
  5 in total

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