Literature DB >> 29211919

Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.

Priya S Dhawan1, Teerin Liewluck1, Joseph Knapik2, Margherita Milone1.   

Abstract

Entities:  

Keywords:  ICD; LMNA; laminopathy; muscular dystrophy; myofibrillar myopathy; vacuoles

Mesh：

Substances：

Year:  2017        PMID： 29211919     DOI： 10.1002/mus.26036

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  4 in total

Review 1.  Genetic Insights into Primary Restrictive Cardiomyopathy.

Authors:  Andreas Brodehl; Brenda Gerull
Journal:  J Clin Med       Date:  2022-04-08       Impact factor: 4.964

Review 2.  Myofibrillar myopathy in the genomic context.

Authors:  Jakub Piotr Fichna; Aleksandra Maruszak; Cezary Żekanowski
Journal:  J Appl Genet       Date:  2018-09-10       Impact factor: 3.240

3.  Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.

Authors:  Zoë J Williams; Deborah Velez-Irizarry; Jessica L Petersen; Julien Ochala; Carrie J Finno; Stephanie J Valberg
Journal:  Equine Vet J       Date:  2020-06-25       Impact factor: 2.888

4.  Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Authors:  Yue-Bei Luo; Yuyao Peng; Yuling Lu; Qiuxiang Li; Huiqian Duan; Fangfang Bi; Huan Yang
Journal:  Front Neurol       Date:  2020-09-15       Impact factor: 4.003
  4 in total

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