Literature DB >> 29341354

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Lois Dankwa1, Jessica Richardson1, William W Motley1,2, Stephan Züchner3, Steven S Scherer1,2.   

Abstract

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2," and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.
© 2018 Peripheral Nerve Society.

Entities:  

Keywords:  CMT; Charcot-Marie-Tooth disease; neuropathy

Mesh：

Substances：

Year:  2018        PMID： 29341354      PMCID： PMC5851840          DOI： 10.1111/jns.12248

Source DB:  PubMed          Journal:  J Peripher Nerv Syst        ISSN： 1085-9489            Impact factor:   3.494


  9 in total

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2.  Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Authors:  Michael Gonzalez; Marni J Falk; Xiaowu Gai; Richard Postrel; Rebecca Schüle; Stephan Zuchner
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Journal:  Nature       Date:  2016-10-24       Impact factor: 49.962

4.  MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Authors:  Kristien Verhoeven; Kristl G Claeys; Stephan Züchner; J Michael Schröder; Joachim Weis; Chantal Ceuterick; Albena Jordanova; Eva Nelis; Els De Vriendt; Matthias Van Hul; Pavel Seeman; Radim Mazanec; Gulam Mustafa Saifi; Kinga Szigeti; Pedro Mancias; Ian J Butler; Andrzej Kochanski; Barbara Ryniewicz; Jan De Bleecker; Peter Van den Bergh; Christine Verellen; Rudy Van Coster; Nathalie Goemans; Michaela Auer-Grumbach; Wim Robberecht; Vedrana Milic Rasic; Yoram Nevo; Ivajlo Tournev; Velina Guergueltcheva; Filip Roelens; Peter Vieregge; Paolo Vinci; Maria Teresa Moreno; H-J Christen; Michael E Shy; James R Lupski; Jeffery M Vance; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2006-05-19       Impact factor: 13.501

5.  MFN2 mutations cause severe phenotypes in most patients with CMT2A.

Authors:  S M E Feely; M Laura; C E Siskind; S Sottile; M Davis; V S Gibbons; M M Reilly; M E Shy
Journal:  Neurology       Date:  2011-04-20       Impact factor: 9.910

Review 6.  Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.

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Journal:  Exp Neurol       Date:  2009-05-08       Impact factor: 5.330

7.  De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

Authors:  William W Motley; Paulius Palaima; Sabrina W Yum; Michael A Gonzalez; Feifei Tao; Julia V Wanschitz; Alleene V Strickland; Wolfgang N Löscher; Els De Vriendt; Stefan Koppi; Livija Medne; Andreas R Janecke; Albena Jordanova; Stephan Zuchner; Steven S Scherer
Journal:  Brain       Date:  2016-03-23       Impact factor: 13.501

8.  Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Authors:  Sinéad M Murphy; David N Herrmann; Michael P McDermott; Steven S Scherer; Michael E Shy; Mary M Reilly; Davide Pareyson
Journal:  J Peripher Nerv Syst       Date:  2011-09       Impact factor: 3.494

Review 9.  Structure, function, and regulation of mitofusin-2 in health and disease.

Authors:  Gursimran Chandhok; Michael Lazarou; Brent Neumann
Journal:  Biol Rev Camb Philos Soc       Date:  2017-10-25
  9 in total
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2.  Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Authors:  Menelaos Pipis; Shawna M E Feely; James M Polke; Mariola Skorupinska; Laura Perez; Rosemary R Shy; Matilde Laura; Jasper M Morrow; Isabella Moroni; Chiara Pisciotta; Franco Taroni; Dragan Vujovic; Thomas E Lloyd; Gyula Acsadi; Sabrina W Yum; Richard A Lewis; Richard S Finkel; David N Herrmann; John W Day; Jun Li; Mario Saporta; Reza Sadjadi; David Walk; Joshua Burns; Francesco Muntoni; Sindhu Ramchandren; Rita Horvath; Nicholas E Johnson; Stephan Züchner; Davide Pareyson; Steven S Scherer; Alexander M Rossor; Michael E Shy; Mary M Reilly
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501
  2 in total

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