Literature DB >> 15699387

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

N G Laing1, C Ceuterick-de Groote, D E Dye, K Liyanage, R M Duff, B Dubois, W Robberecht, R Sciot, J-J Martin, H H Goebel.   

Abstract

Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.

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Year:  2005        PMID： 15699387     DOI： 10.1212/01.WNL.0000150581.37514.30

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


  12 in total

1.  MYH7 mutation associated with two phenotypes of myopathy.

Authors:  Nan Li; Zhe Zhao; Hongrui Shen; Qi Bing; Xuan Guo; Jing Hu
Journal:  Neurol Sci       Date:  2017-11-24       Impact factor: 3.307

2.  Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys).

Authors:  M Li; A Lionikas; F Yu; H Tajsharghi; A Oldfors; L Larsson
Journal:  Neuromuscul Disord       Date:  2006-09-26       Impact factor: 4.296

3.  A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Authors:  Nigel F Clarke; Kimberly Amburgey; James Teener; Sandra Camelo-Piragua; Akanchha Kesari; Jaya Punetha; Leigh B Waddell; Mark Davis; Nigel G Laing; Nicole Monnier; Kathryn N North; Eric P Hoffman; James J Dowling
Journal:  Neuromuscul Disord       Date:  2013-03-09       Impact factor: 4.296

4.  Myosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3.

Authors:  Jens Fielitz; Mi-Sung Kim; John M Shelton; Shuaib Latif; Jeffrey A Spencer; David J Glass; James A Richardson; Rhonda Bassel-Duby; Eric N Olson
Journal:  J Clin Invest       Date:  2007-09       Impact factor: 14.808

5.  Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Authors:  Meera C Viswanathan; Rick C Tham; William A Kronert; Floyd Sarsoza; Adriana S Trujillo; Anthony Cammarato; Sanford I Bernstein
Journal:  Hum Mol Genet       Date:  2017-12-15       Impact factor: 6.150

6.  Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Authors:  Thomas Z Armel; Leslie A Leinwand
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-31       Impact factor: 11.205

7.  Thick and thin filament gene mutations in striated muscle diseases.

Authors:  Homa Tajsharghi
Journal:  Int J Mol Sci       Date:  2008-07-16       Impact factor: 6.208

8.  Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.

Authors:  Martin Dahl-Halvarsson; Malgorzata Pokrzywa; Manish Rauthan; Marc Pilon; Homa Tajsharghi
Journal:  PLoS One       Date:  2017-01-26       Impact factor: 3.240

9.  Mutations in the tail domain of MYH3 contributes to atrial septal defect.

Authors:  Sathiya Maran; Robson Ee; Siti Aisyah Faten; Choi Sy Bing; Kooi Yeong Khaw; Swee-Hua Erin Lim; Kok-Song Lai; Wan Pauzi Wan Ibrahim; Mohd Rizal Mohd Zain; Kok Gan Chan; Siew Hua Gan; Huay Lin Tan
Journal:  PLoS One       Date:  2020-04-21       Impact factor: 3.240

Review 10.  Myosinopathies: pathology and mechanisms.

Authors:  Homa Tajsharghi; Anders Oldfors
Journal:  Acta Neuropathol       Date:  2012-08-05       Impact factor: 17.088
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