Literature DB >> 24176421

Muscular dystrophies and other genetic myopathies.

Perry B Shieh1.   

Abstract

With advances in the genetics of muscle disease, the term, muscular dystrophy, has expanded to include mutations in an increasing large list of genes. This review discusses the genetics, pathophysiology, and potential treatments of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Other forms of muscular dystrophy and other genetic muscle disorders are also discussed to provide an overview of this complex clinical problem.
Copyright © 2013 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Congenital; FSHD; Limb-Girdle; Metabolic; Muscular dystrophy; Myopathy; Myotonic dystrophy

Mesh:

Year:  2013        PMID: 24176421     DOI: 10.1016/j.ncl.2013.04.004

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  25 in total

1.  Different Evolutionary Trajectories of Two Insect-Specific Paralogous Proteins Involved in Stabilizing Muscle Myofibrils.

Authors:  Nicanor González-Morales; Thomas W Marsh; Anja Katzemich; Océane Marescal; Yu Shu Xiao; Frieder Schöck
Journal:  Genetics       Date:  2019-05-13       Impact factor: 4.562

2.  New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Authors:  Jorge Oliveira; Luís Negrão; Isabel Fineza; Ricardo Taipa; Manuel Melo-Pires; Ana Maria Fortuna; Ana Rita Gonçalves; Hugo Froufe; Conceição Egas; Rosário Santos; Mário Sousa
Journal:  J Hum Genet       Date:  2015-03-05       Impact factor: 3.172

3.  Galectin-1 Protein Therapy Prevents Pathology and Improves Muscle Function in the mdx Mouse Model of Duchenne Muscular Dystrophy.

Authors:  Pam M Van Ry; Ryan D Wuebbles; Megan Key; Dean J Burkin
Journal:  Mol Ther       Date:  2015-06-08       Impact factor: 11.454

Review 4.  Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle.

Authors:  Olivier Boyer; Gillian Butler-Browne; Hector Chinoy; Giulio Cossu; Francesco Galli; James B Lilleker; Alessandro Magli; Vincent Mouly; Rita C R Perlingeiro; Stefano C Previtali; Maurilio Sampaolesi; Hubert Smeets; Verena Schoewel-Wolf; Simone Spuler; Yvan Torrente; Florence Van Tienen
Journal:  Front Genet       Date:  2021-08-02       Impact factor: 4.599

5.  Post-translational Modification in Muscular Dystrophies.

Authors:  Martina Sandonà; Valentina Saccone
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 3.650

6.  The Emerging Roles of Nicotinamide Adenine Dinucleotide Phosphate Oxidase 2 in Skeletal Muscle Redox Signaling and Metabolism.

Authors:  Carlos Henríquez-Olguín; Susanna Boronat; Claudio Cabello-Verrugio; Enrique Jaimovich; Elena Hidalgo; Thomas E Jensen
Journal:  Antioxid Redox Signal       Date:  2019-11-01       Impact factor: 8.401

7.  Origins of strabismus and loss of binocular vision.

Authors:  Emmanuel Bui Quoc; Chantal Milleret
Journal:  Front Integr Neurosci       Date:  2014-09-25

8.  Generation and Characterization of a MYF5 Reporter Human iPS Cell Line Using CRISPR/Cas9 Mediated Homologous Recombination.

Authors:  Jianbo Wu; Samuel D Hunt; Haipeng Xue; Ying Liu; Radbod Darabi
Journal:  Sci Rep       Date:  2016-01-05       Impact factor: 4.379

9.  Zasp52, a Core Z-disc Protein in Drosophila Indirect Flight Muscles, Interacts with α-Actinin via an Extended PDZ Domain.

Authors:  Kuo An Liao; Nicanor González-Morales; Frieder Schöck
Journal:  PLoS Genet       Date:  2016-10-26       Impact factor: 5.917

10.  Segregation of striated and smooth muscle lineages by a Notch-dependent regulatory network.

Authors:  Mordechai Applebaum; Raz Ben-Yair; Chaya Kalcheim
Journal:  BMC Biol       Date:  2014-07-12       Impact factor: 7.431

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